Pasquale Striano
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Computer Science
Pasquale Striano's Degrees
- PhD Computer Science University of Naples Federico II
- Masters Computer Engineering University of Naples Federico II
- Bachelors Computer Engineering University of Naples Federico II
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(Suggest an Edit or Addition)Pasquale Striano's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Analysis of shared heritability in common disorders of the brain (2016) (1385)
- Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. (2008) (578)
- Mapping the human genetic architecture of COVID-19 (2021) (455)
- Antisense oligonucleotides: the next frontier for treatment of neurological disorders (2018) (383)
- Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders (2017) (339)
- Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. (2006) (314)
- De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies. (2017) (272)
- Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study (2018) (256)
- Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies (2014) (222)
- Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export (2015) (214)
- Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies (2018) (213)
- De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy (2015) (211)
- De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. (2013) (192)
- De novo variants in neurodevelopmental disorders with epilepsy (2017) (186)
- Observing Huntington’s Disease: the European Huntington’s Disease Network’s REGISTRY (2011) (186)
- Characterization of a recurrent 15q24 microdeletion syndrome. (2007) (185)
- De novo mutations in HCN1 cause early infantile epileptic encephalopathy (2014) (182)
- Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals (2019) (176)
- Posterior reversible encephalopathy syndrome in intensive care medicine (2007) (176)
- Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A (2013) (172)
- Relationship between adverse effects of antiepileptic drugs, number of coprescribed drugs, and drug load in a large cohort of consecutive patients with drug‐refractory epilepsy (2010) (168)
- The natural history of spinocerebellar ataxia type 1, 2, 3, and 6 (2011) (167)
- Posterior reversible encephalopathy syndrome: the endothelial hypotheses. (2014) (165)
- SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis (2009) (158)
- Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures. (2015) (151)
- Infantile spasms syndrome, West syndrome and related phenotypes: What we know in 2013 (2014) (151)
- Eyelid myoclonia with absences (Jeavons syndrome): A well‐defined idiopathic generalized epilepsy syndrome or a spectrum of photosensitive conditions? (2009) (147)
- Extending the KCNQ2 encephalopathy spectrum (2013) (143)
- STXBP1 encephalopathy (2016) (143)
- TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy. (2010) (142)
- Posterior reversible encephalopathy syndrome (PRES) in critically ill obstetric patients (2003) (138)
- LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy (2009) (137)
- Consensus on diagnosis and management of JME: From founder's observations to current trends (2013) (136)
- Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. (2012) (134)
- Cowchock syndrome is associated with a mutation in apoptosis-inducing factor. (2012) (123)
- KCNQ2 encephalopathy: Delineation of the electroclinical phenotype and treatment response (2014) (117)
- AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders (2019) (111)
- Metabolic and endocrine effects of valproic acid chronic treatment (2013) (111)
- An open-label trial of levetiracetam in severe myoclonic epilepsy of infancy (2007) (111)
- The landscape of epilepsy-related GATOR1 variants (2018) (110)
- Epidemiology of juvenile myoclonic epilepsy (2013) (110)
- Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance (2013) (109)
- Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. (2006) (109)
- Clinical spectrum and critical care management of Posterior Reversible Encephalopathy Syndrome (PRES). (2005) (105)
- Mutations in KCNT1 cause a spectrum of focal epilepsies (2015) (105)
- Epilepsy in cerebrovascular diseases: Review of experimental and clinical data with meta‐analysis of risk factors (2016) (104)
- Expert Opinion on the Management of Lennox–Gastaut Syndrome: Treatment Algorithms and Practical Considerations (2017) (104)
- Migralepsy, hemicrania epileptica, post-ictal headache and “ictal epileptic headache”: a proposal for terminology and classification revision (2011) (96)
- PRRT2 Mutations are the major cause of benign familial infantile seizures (2012) (95)
- Hyperhomocysteinemia in epileptic patients on new antiepileptic drugs (2010) (92)
- Gelastic Epilepsy: Symptomatic and Cryptogenic Cases (1999) (90)
- ‘Ictal epileptic headache’: Recent concepts for new classifications criteria (2012) (89)
- GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy (2012) (87)
- Eyelid myoclonia with absences: an overlooked epileptic syndrome? (2002) (87)
- Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy (2006) (87)
- Microbiota-gut brain axis involvement in neuropsychiatric disorders (2019) (85)
- A pilot trial of levetiracetam in eyelid myoclonia with absences (Jeavons syndrome) (2008) (84)
- Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3 (2019) (84)
- Coexistence of epilepsy and Brugada syndrome in a family with SCN5A mutation (2013) (82)
- A Novel SCN2A Mutation in Family with Benign Familial Infantile Seizures (2006) (81)
- Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy. (2015) (80)
- Co‐occurring malformations of cortical development and SCN1A gene mutations (2014) (78)
- Progressive myoclonic epilepsies (2014) (77)
- Idiopathic partial epilepsy with auditory features (IPEAF): a clinical and genetic study of 53 sporadic cases. (2004) (77)
- Brain MRI Findings in Severe Myoclonic Epilepsy in Infancy and Genotype–Phenotype Correlations (2007) (77)
- Autoantibodies to glutamic acid decarboxylase (GAD) in focal and generalized epilepsy: A study on 233 patients (2009) (77)
- Atorvastatin Combined To Interferon to Verify the Efficacy (ACTIVE) in relapsing— remitting active multiple sclerosis patients: a longitudinal controlled trial of combination therapy (2010) (76)
- White matter abnormalities across different epilepsy syndromes in adults: an ENIGMA Epilepsy study (2019) (74)
- Defining the phenotypic spectrum of SLC6A1 mutations (2018) (74)
- Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 (2019) (73)
- Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment (2019) (73)
- Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12 (2013) (72)
- Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. (2013) (72)
- Lafora disease. (2016) (72)
- Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy (2014) (72)
- Recent advances in epilepsy genetics (2017) (71)
- TBC1D24 genotype–phenotype correlation (2016) (70)
- Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization. (2012) (69)
- Phenotypic spectrum of GABRA1 (2016) (69)
- Pitfalls in genetic testing: the story of missed SCN1A mutations (2016) (69)
- Reflex seizures and reflex epilepsies: Old models for understanding mechanisms of epileptogenesis (2012) (68)
- The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome (2015) (67)
- PRRT2-related disorders: further PKD and ICCA cases and review of the literature (2013) (67)
- HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond (2018) (67)
- Insulinlike Growth Factor (IGF)-1 Administration Ameliorates Disease Manifestations in a Mouse Model of Spinal and Bulbar Muscular Atrophy (2012) (67)
- Clinical and Genetic Findings in 26 Italian Patients with Lafora Disease (2006) (65)
- Lateralizing Value of the Auditory Aura in Partial Seizures (2006) (65)
- A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. (2019) (64)
- A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability (2015) (63)
- Migralepsy and related conditions: Advances in pathophysiology and classification (2011) (62)
- Neurologic phenotypes associated with COL4A1/2 mutations (2018) (61)
- Characterisation of CASPR2 deficiency disorder - a syndrome involving autism, epilepsy and language impairment (2015) (61)
- Network-based atrophy modeling in the common epilepsies: A worldwide ENIGMA study (2020) (60)
- Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study (2018) (60)
- Challenges and management of neurological and psychiatric manifestations in SARS-CoV-2 (COVID-19) patients (2020) (60)
- A DE NOVO LGI1 MUTATION CAUSING IDIOPATHIC PARTIAL EPILEPSY WITH TELEPHONE-INDUCED SEIZURES (2007) (59)
- Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy (2017) (59)
- Levetiracetam in patients with cortical myoclonus: A clinical and electrophysiological study (2005) (58)
- The clinical spectrum and natural history of gelastic epilepsy-hypothalamic hamartoma syndrome (2005) (58)
- Efficacy of sodium channel blockers in SCN2A early infantile epileptic encephalopathy (2017) (57)
- Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant (2015) (56)
- Effectiveness of antiepileptic therapy in patients with PCDH19 mutations (2016) (56)
- Genetics of reflex seizures and epilepsies in humans and animals (2016) (55)
- Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations (2006) (55)
- Idiopathic focal epilepsies: the "lost tribe". (2016) (55)
- The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies (2017) (55)
- Late‐onset and Slow‐progressing Lafora Disease in Four Siblings with EPM2B Mutation (2005) (54)
- The Pharmacoresistant Epilepsy: An Overview on Existant and New Emerging Therapies (2021) (54)
- Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia. (2015) (54)
- A randomized controlled clinical trial of growth hormone in amyotrophic lateral sclerosis: clinical, neuroimaging, and hormonal results (2011) (54)
- Effectiveness and tolerability of perampanel in children and adolescents with refractory epilepsies—An Italian observational multicenter study (2016) (54)
- Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. (2018) (54)
- Typical progression of myoclonic epilepsy of the Lafora type: a case report (2008) (54)
- The gelastic seizures-hypothalamic hamartoma syndrome: Facts, hypotheses, and perspectives (2012) (54)
- Long-term evolution of EEG in Unverricht-Lundborg disease (2007) (54)
- Ictal epileptic headache: an old story with courses and appeals (2012) (53)
- Epileptic seizures in multiple sclerosis: clinical and EEG correlations (2003) (53)
- Lacosamide in pediatric and adult patients: Comparison of efficacy and safety (2013) (53)
- Autosomal dominant cortical tremor, myoclonus and epilepsy: many syndromes, one phenotype (2005) (52)
- A functional polymorphism in the SCN1A gene does not influence antiepileptic drug responsiveness in Italian patients with focal epilepsy (2011) (52)
- Familial temporal lobe epilepsy with psychic auras associated with a novel LGI1 mutation (2011) (52)
- MicroRNA-298 reduces levels of human amyloid-β precursor protein (APP), β-site APP-converting enzyme 1 (BACE1) and specific tau protein moieties (2020) (50)
- Cannabidiol efficacy and clobazam status: A systematic review and meta‐analysis (2020) (50)
- 1H‐MR spectroscopy indicates prominent cerebellar dysfunction in benign adult familial myoclonic epilepsy (2009) (49)
- Mutational Analysis of EFHC1 Gene in Italian Families with Juvenile Myoclonic Epilepsy (2007) (49)
- Genetic investigation of sudden unexpected death in epilepsy cohort by panel target resequencing (2016) (49)
- Diagnostic implications of genetic copy number variation in epilepsy plus (2019) (49)
- West syndrome associated with 14q12 duplications harboring FOXG1 (2011) (49)
- Adjunctive Cannabidiol in Patients with Dravet Syndrome: A Systematic Review and Meta-Analysis of Efficacy and Safety (2020) (49)
- Loss‐of‐function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death (2013) (48)
- Antiepileptic drugs, hyperhomocysteinemia and B-vitamins supplementation in patients with epilepsy (2012) (48)
- A New Benign Adult Familial Myoclonic Epilepsy (BAFME) Pedigree Suggesting Linkage to Chromosome 2p11.1‐q12.2 (2004) (48)
- Management of genetic epilepsies: From empirical treatment to precision medicine. (2016) (48)
- Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: another genetic hit in the Mediterranean (2006) (47)
- Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients (2014) (47)
- The spectrum of intermediate SCN8A‐related epilepsy (2019) (47)
- Spinal and bulbar muscular atrophy: pathogenesis and clinical management. (2014) (47)
- The genetics of monogenic idiopathic epilepsies and epileptic encephalopathies (2012) (46)
- What have we learned about ictal epileptic headache? A review of well-documented cases (2013) (46)
- Relationship between serum mono-hydroxy-carbazepine concentrations and adverse effects in patients with epilepsy on high-dose oxcarbazepine therapy (2006) (46)
- Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases (2006) (46)
- The syndrome gelastic seizures–hypothalamic hamartoma: Severe, potentially reversible encephalopathy (2009) (45)
- 6q Terminal Deletion Syndrome Associated with a Distinctive EEG and Clinical Pattern: A Report of Five Cases (2006) (45)
- The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism (2013) (45)
- Gabapentin: a Ca2+ channel alpha 2-delta ligand far beyond epilepsy therapy. (2008) (45)
- Antiepileptic Drugs and MTHFR Polymorphisms Influence Hyper‐Homocysteinemia Recurrence in Epileptic Patients (2007) (44)
- Dramatic response to levetiracetam in post-ischaemic Holmes’ tremor (2006) (44)
- A small-molecule Nrf1 and Nrf2 activator mitigates polyglutamine toxicity in spinal and bulbar muscular atrophy. (2016) (44)
- Hypertension, seizures, and epilepsy: a review on pathophysiology and management (2019) (44)
- Retrospective evaluation of low long-term efficacy of antiepileptic drugs and ketogenic diet in 39 patients with CDKL5-related epilepsy. (2016) (44)
- Neuroimaging and neuropathology of Dravet syndrome (2011) (44)
- Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis. (2007) (44)
- A novel loss-of-function LGI1 mutation linked to autosomal dominant lateral temporal epilepsy. (2008) (43)
- Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities (2016) (43)
- Screening for C677T and A1298C MTHFR polymorphisms in patients with epilepsy and risk of hyperhomocysteinemia (2007) (43)
- Whole-genome linkage scan for epilepsy-related photosensitivity: A mega-analysis (2010) (43)
- Can we ‘seize’ the gut microbiota to treat epilepsy? (2019) (42)
- Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critical Issues for Personalized Therapy (2018) (42)
- Low long-term efficacy and tolerability of add-on rufinamide in patients with Dravet syndrome (2011) (42)
- No major role for the EMX2 gene in schizencephaly (2008) (42)
- Genetic and forensic implications in epilepsy and cardiac arrhythmias: a case series (2015) (41)
- Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish (2019) (41)
- Treatment and outcome of children with cerebral cavernomas: a survey on 32 patients (2010) (41)
- Rescuable folding defective NaV1.1 (SCN1A) mutants in epilepsy: Properties, occurrence, and novel rescuing strategy with peptides targeted to the endoplasmic reticulum (2015) (41)
- De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy (2016) (41)
- Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat (2014) (40)
- Diagnostic criteria currently proposed for “ictal epileptic headache”: Perspectives on strengths, weaknesses and pitfalls (2015) (40)
- Eyelid fluttering, typical EEG pattern, and impaired intellectual function: A homogeneous epileptic condition among the patients presenting with eyelid myoclonia (2009) (39)
- From Genetic Testing to Precision Medicine in Epilepsy (2020) (39)
- Faciobrachial dystonic attacks: Seizures or movement disorder? (2011) (39)
- The pharmacological management of Lennox-Gastaut syndrome and critical literature review (2018) (39)
- Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. (2019) (39)
- Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine‐dependent seizures (2009) (38)
- Ictal Epileptic Headache Mimicking Status Migrainosus: EEG and DWI‐MRI Findings (2011) (38)
- Venous angiomas and epilepsy (2000) (38)
- A Distinctive Ictal Amplitude-Integrated Electroencephalography Pattern in Newborns with Neonatal Epilepsy Associated with KCNQ2 Mutations (2017) (38)
- Intravenous lacosamide as treatment option in post-stroke non convulsive status epilepticus in the elderly: A proof-of-concept, observational study (2013) (37)
- Dramatic effect of levetiracetam in early-onset epileptic encephalopathy due to STXBP1 mutation (2016) (37)
- Beyond motor neurons: expanding the clinical spectrum in Kennedy’s disease (2018) (37)
- Natural history and long‐term evolution in families with autosomal dominant cortical tremor, myoclonus, and epilepsy (2011) (37)
- Genome‐wide linkage meta‐analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies (2012) (36)
- Benign adult familial myoclonic epilepsy (2003) (36)
- Eating epilepsy. Heterogeneity of ictal semiology: the role of video-EEG monitoring. (2000) (36)
- The α2B‐adrenergic receptor is mutant in cortical myoclonus and epilepsy (2014) (36)
- The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy (2019) (35)
- SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals (2019) (35)
- Lennox‐Gastaut syndrome with late‐onset and prominent reflex seizures in trisomy 21 patients (2009) (35)
- Homozygous STXBP1 variant causes encephalopathy and gain-of-function in synaptic transmission (2019) (34)
- The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy (2005) (34)
- Refractory absence seizures: An Italian multicenter retrospective study. (2015) (34)
- Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families (2008) (34)
- Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study (2009) (34)
- Familial mesial temporal lobe epilepsy (FMTLE) : a clinical and genetic study of 15 Italian families. (2008) (33)
- Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification (2020) (33)
- Clinical guidelines in pediatric headache: evaluation of quality using the AGREE II instrument (2014) (33)
- DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy (2015) (33)
- The Role of the Protein Quality Control System in SBMA (2015) (33)
- Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features (2017) (33)
- Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency (2020) (33)
- Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients (2017) (32)
- Intestinal inflammation increases convulsant activity and reduces antiepileptic drug efficacy in a mouse model of epilepsy (2019) (32)
- Clinical and genetic spectrum of SCN2A-associated episodic ataxia. (2019) (32)
- The ENIGMA‐Epilepsy working group: Mapping disease from large data sets (2020) (32)
- Low penetrance of autosomal dominant lateral temporal epilepsy in Italian families without LGI1 mutations (2013) (32)
- Non-resective surgery and radiosurgery for treatment of drug-resistant epilepsy (2012) (32)
- Risk factors for unprovoked epileptic seizures in multiple sclerosis: a systematic review and meta-analysis (2017) (31)
- Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs). (2016) (31)
- TEMPORAL LOBE ABNORMALITIES ON BRAIN MRI IN HEALTHY VOLUNTEERS: A PROSPECTIVE CASE-CONTROL STUDY (2010) (31)
- Predictors of Survival in a Huntington's Disease Population from Southern Italy (2012) (31)
- Non‐interventional surveillance study of adverse events in patients with epilepsy (2011) (31)
- Familial mesial temporal lobe epilepsy (FMTLE) (2007) (31)
- Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy (2019) (31)
- Defining the electroclinical phenotype and outcome of PCDH19‐related epilepsy: A multicenter study (2018) (30)
- Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects. (2020) (30)
- Cannabidiol as adjunctive treatment of seizures associated with Lennox-Gastaut syndrome and Dravet syndrome. (2019) (30)
- Small hypothalamic hamartomas and gelastic seizures. (2002) (30)
- Genetic heterogeneity in infantile spasms (2019) (30)
- Unilateral Eye Blinking Arising From the Ictal Ipsilateral Occipital Area (2016) (30)
- “Ictal epileptic headache”: Beyond the epidemiological evidence (2012) (30)
- Autosomal dominant lateral temporal epilepsy: Absence of mutations in ADAM22 and Kv1 channel genes encoding LGI1-associated proteins (2008) (29)
- Adjunctive Cenobamate for Focal-Onset Seizures in Adults: A Systematic Review and Meta-Analysis (2020) (29)
- Advances in genetic testing and optimization of clinical management in children and adults with epilepsy (2020) (29)
- PRRT2: a major cause of infantile epilepsy and other paroxysmal disorders of childhood. (2014) (29)
- Changes in Panayiotopoulos syndrome over time (2009) (29)
- Life‐Threatening Status Epilepticus Following Gabapentin Administration in a Patient with Benign Adult Familial Myoclonic Epilepsy (2007) (29)
- The ClinGen Epilepsy Gene Curation Expert Panel—Bridging the divide between clinical domain knowledge and formal gene curation criteria (2018) (28)
- Benign hereditary chorea: Clinical and neuroimaging features in an Italian family (2010) (28)
- Status epilepticus migrainosus: Clinical, electrophysiologic, and imaging characteristics (2011) (28)
- LGI1 microdeletion in autosomal dominant lateral temporal epilepsy (2012) (28)
- EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement (2013) (28)
- Sensing R-Loop-Associated DNA Damage to Safeguard Genome Stability (2021) (27)
- Heterogeneous seizure manifestations in Hypomelanosis of Ito: report of four new cases and review of the literature (2010) (27)
- Refractory, life-threatening status epilepticus in a 3-year-old girl (2008) (27)
- Galloway–Mowat syndrome: An early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature (2010) (27)
- CHD2 mutations are a rare cause of generalized epilepsy with myoclonic–atonic seizures (2015) (27)
- Unfavourable outcome of Hashimoto encephalopathy due to status epilepticus (2006) (27)
- Low-dose idebenone treatment in Friedreich’s ataxia with and without cardiac hypertrophy (2009) (27)
- Severe pulmonary congestion in a near miss at the first seizure: Further evidence for respiratory dysfunction in sudden unexpected death in epilepsy (2009) (27)
- Highly Purified Cannabidiol for Epilepsy Treatment: A Systematic Review of Epileptic Conditions Beyond Dravet Syndrome and Lennox–Gastaut Syndrome (2021) (27)
- Novel GABRG2 mutations cause familial febrile seizures (2015) (27)
- Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study (2018) (26)
- Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders (2020) (26)
- Tiagabine in glial tumors (2002) (26)
- Levetiracetam for cerebellar tremor in multiple sclerosis (2006) (26)
- Linkage Analysis and Disease Models in Benign Familial Infantile Seizures: A Study of 16 Families (2006) (26)
- Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications (2021) (26)
- First long-term experience with the orphan drug rufinamide in children with myoclonic-astatic epilepsy (Doose syndrome). (2012) (26)
- MiR-298 Counteracts Mutant Androgen Receptor Toxicity in Spinal and Bulbar Muscular Atrophy (2016) (26)
- Epilepsy associated with supratentorial brain tumors under 3 years of life (2009) (26)
- Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet (2017) (26)
- Coexistence of childhood absence epilepsy and benign epilepsy with centrotemporal spikes: A case series. (2017) (26)
- The clinical phenotype of autosomal dominant lateral temporal lobe epilepsy related to reelin mutations (2017) (26)
- Epilepsy is a possible feature in Williams‐Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region (2016) (25)
- Early onset absence epilepsy with onset in the first year of life: A multicenter cohort study (2013) (25)
- Epilepsia partialis continua as a first symptom of multiple sclerosis: electrophysiological study of one case (2003) (25)
- Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders (2017) (25)
- Pediatric status epilepticus: improved management with new drug therapies? (2017) (24)
- NMDA receptor gene variations as modifiers in Huntington disease: a replication study (2011) (24)
- Emerging drugs for the treatment of Dravet syndrome (2018) (24)
- Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP (2017) (24)
- Comparative effectiveness of antiepileptic drugs in juvenile myoclonic epilepsy (2019) (24)
- Clinical features of Sturge-Weber syndrome without facial nevus: five novel cases. (2013) (24)
- Neurologic phenotypes associated with COL4A1 / 2 mutations Expanding the spectrum of disease (24)
- Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis (2017) (24)
- Sleep-related hypermotor epilepsy (SHE): Contribution of known genes in 103 patients (2019) (24)
- Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1 q 43 , 2 p 16 . 1 , 2 q 22 . 3 and 17 q 21 . 32 (2012) (23)
- Ganaxolone treatment for epilepsy patients: from pharmacology to place in therapy (2021) (23)
- Moving beyond sodium valproate: choosing the right anti-epileptic drug in children (2019) (23)
- Type 1 diabetes and epilepsy: More than a casual association? (2010) (23)
- Pyridoxine‐dependent epilepsy: An under‐recognised cause of intractable seizures (2012) (23)
- Seizures in fetal alcohol spectrum disorders: Evaluation of clinical, electroencephalographic, and neuroradiologic features in a pediatric case series (2014) (23)
- Pharmacokinetics and Drug Interaction of Antiepileptic Drugs in Children and Adolescents (2018) (23)
- Electroencephalographic Features in Dravet Syndrome (2012) (23)
- The saga of Eluana Englaro: another tragedy feeding the media (2009) (23)
- The Multiple Faces of Spinocerebellar Ataxia type 2 (2017) (23)
- Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals. (2021) (23)
- Temporal Lobe Epilepsy and Psychiatric Comorbidity (2021) (23)
- Distal hypoglycemic neuropathy. An insulinoma-associated case, misdiagnosed as temporal lobe epilepsy (2003) (23)
- Continuum modeling of polarizable systems (2002) (22)
- Electroclinical features and long-term outcome of cryptogenic epilepsy in children with Down syndrome. (2013) (22)
- Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities (2017) (22)
- Third-Generation Antiseizure Medications for Adjunctive Treatment of Focal-Onset Seizures in Adults: A Systematic Review and Network Meta-analysis (2022) (22)
- Early‐onset absence epilepsy: SLC2A1 gene analysis and treatment evolution (2013) (22)
- FAME 3: A NOVEL FORM OF PROGRESSIVE MYOCLONUS AND EPILEPSY (2007) (22)
- Epilepsy in patients with Cornelia de Lange syndrome: A clinical series (2013) (22)
- A pilot open‐label trial of zonisamide in Unverricht‐Lundborg disease (2011) (21)
- KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum. (2021) (21)
- Expanding the spectrum of congenital anomalies of the diencephalic–mesencephalic junction (2015) (21)
- Post-traumatic stress, anxiety, and depressive symptoms in caregivers of children tested for COVID-19 in the acute phase of the Italian outbreak (2021) (21)
- Gain‐of‐function HCN2 variants in genetic epilepsy (2018) (21)
- Levetiracetam for cerebellar tremor in multiple sclerosis: an open-label pilot tolerability and efficacy study. (2006) (21)
- The history of progressive myoclonus epilepsies. (2016) (21)
- Treatment of Adults with Lennox–Gastaut Syndrome: Further Analysis of Efficacy and Safety/Tolerability of Rufinamide (2016) (21)
- Clinical features and evolution of the gelastic seizures–hypothalamic hamartoma syndrome (2017) (20)
- Levetiracetam-associated hyponatremia (2008) (20)
- Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2 (2016) (20)
- Temporal lobe epilepsy and anti glutamic acid decarboxylase autoimmunity (2011) (20)
- A candidate gene for autoimmune myasthenia gravis (2012) (20)
- Autosomal dominant lateral temporal epilepsy (ADLTE): Novel structural and single-nucleotide LGI1 mutations in families with predominant visual auras (2015) (20)
- Safety of Overnight Switch from Brand-Name to Generic Levetiracetam (2015) (20)
- Efficacy of levetiracetam in the treatment of drug-resistant Rett syndrome (2010) (20)
- From gene to therapy in spinal and bulbar muscular atrophy: Are we there yet? (2017) (20)
- Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations (2007) (20)
- Insulin sensitivity and early-phase insulin secretion in normoglycemic Huntington's disease patients. (2013) (19)
- Mutations in MICAL‐1cause autosomal‐dominant lateral temporal epilepsy (2018) (19)
- Analysis of LGI1 promoter sequence, PDYN and GABBR1 polymorphisms in sporadic and familial lateral temporal lobe epilepsy (2008) (19)
- Processing of DNA Double-Strand Breaks by the MRX Complex in a Chromatin Context (2019) (19)
- Erratum: De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013)) (2017) (19)
- Fenfluramine for the Treatment of Dravet Syndrome and Lennox–Gastaut Syndrome (2020) (19)
- Long-term outcome of epilepsy in patients with Prader–Willi syndrome (2014) (19)
- Neuropsychological findings in patients with Unverricht–Lundborg disease (2009) (19)
- Autosomal dominant cortical tremor, myoclonus and epilepsy. (2016) (19)
- The crossover between headache and epilepsy (2013) (19)
- Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes. (2021) (19)
- Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies (2022) (19)
- Rufinamide for the treatment of Lennox-Gastaut syndrome: evidence from clinical trials and clinical practice. (2018) (19)
- Periodic myoclonus due to cytomegalovirus encephalitis in a patient with good syndrome. (2007) (18)
- Epilepsy and chromosome 18 abnormalities: A review (2015) (18)
- Genetic epileptic encephalopathies: Is all written into the DNA? (2013) (18)
- Self-induction seizures in sunflower epilepsy: a video-EEG report. (2014) (18)
- Increased efficacy of combining prebiotic and postbiotic in mouse models relevant to autism and depression (2021) (18)
- Electroclinical and Genetic Findings in a Family with Cortical Tremor, Myoclonus, and Epilepsy (2005) (18)
- Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study. (2020) (18)
- Practical use of pharmaceutically purified oral cannabidiol in Dravet syndrome and Lennox-Gastaut syndrome (2020) (18)
- Glutamic acid decarboxylase antibodies in idiopathic generalized epilepsy and type 1 diabetes (2008) (17)
- Treatment of myoclonic seizures (2012) (17)
- Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy. (2021) (17)
- Testing association of rare genetic variants with resistance to three common antiseizure medications (2020) (17)
- The impact of perampanel and targeting AMPA transmission on anti-seizure drug discovery (2019) (17)
- Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants (2020) (17)
- Long-term follow-up in two siblings with pyridoxine-dependent seizures associated with a novel ALDH7A1 mutation. (2011) (17)
- Recurrent hypothermia with hyperhidrosis in two siblings: familial Shapiro syndrome variant (2012) (17)
- A novel homozygous MFN2 mutation associated with severe and atypical CMT2 phenotype. (2018) (17)
- The brain–heart interaction in epilepsy: implications for diagnosis, therapy, and SUDEP prevention (2021) (17)
- Cannabidiol Treatment for Refractory Epilepsies in Pediatrics (2020) (17)
- Polyglutamine-Expanded Androgen Receptor Alteration of Skeletal Muscle Homeostasis and Myonuclear Aggregation Are Affected by Sex, Age and Muscle Metabolism (2020) (17)
- Genetics: Mutations in mTOR pathway linked to megalencephaly syndromes (2012) (17)
- Electroclinical features of epilepsy associated with 1p36 deletion syndrome: A review (2018) (17)
- Artificial intelligence for classification of temporal lobe epilepsy with ROI-level MRI data: A worldwide ENIGMA-Epilepsy study (2021) (17)
- Autoantibodies to glutamic acid decarboxylase in patients with epilepsy: What is their clinical relevance? (2011) (17)
- Epileptic Encephalopathy with Continuous Spikes and Waves During Sleep (2013) (17)
- End-of-life: still an Italian dilemma (2008) (17)
- Limited place for plasma monitoring of new antiepileptic drugs in clinical practice. (2008) (16)
- White matter involvement in a family with a novel PDGFB mutation (2016) (16)
- Muscle Matters in Kennedy’s Disease (2014) (16)
- 72nd Congress of the Italian Society of Pediatrics (2017) (16)
- An Italian multicentre study of perampanel in progressive myoclonus epilepsies (2019) (16)
- Autosomal Dominant Cortical Myoclonus and Epilepsy (2010) (16)
- Assessing the landscape of STXBP1-related disorders in 534 individuals (2021) (16)
- Tonic seizures: a diagnostic clue of anti-LGI1 encephalitis? (2011) (16)
- Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome (2016) (16)
- Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies (2019) (16)
- Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies (2021) (16)
- Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study (2021) (16)
- Suppression of myoclonus in SCA2 by piracetam (2006) (15)
- Serum lactate dehydrogenase as early marker of posterior reversible encephalopathy syndrome: keep your eyes open. (2012) (15)
- Clinical reappraisal of the influence of drug-transporter polymorphisms in epilepsy (2018) (15)
- Inherited neuromyotonia: A clinical and genetic study of a family (2007) (15)
- A t(4;9)(q34;p22) Translocation Associated with Partial Epilepsy, Mental Retardation, and Dysmorphism (2005) (15)
- Ictal Epileptic Headache: When Terminology Is Not a Moot Question (2019) (15)
- Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project (2020) (15)
- The role of inflammatory mediators in epilepsy: Focus on developmental and epileptic encephalopathies and therapeutic implications (2021) (15)
- Course and outcome of a voltage-gated potassium channel antibody negative Morvan’s syndrome (2009) (15)
- A clinical and genetic study of 33 new cases with early-onset absence epilepsy (2011) (15)
- Suppression of myoclonus in SCA2 by piracetam (2006) (15)
- Trait impulsivity in Juvenile Myoclonic Epilepsy (2020) (15)
- ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum. (2018) (14)
- New and investigational antiepileptic drugs (2009) (14)
- Atlas of lesion locations and postsurgical seizure freedom in focal cortical dysplasia: A MELD study (2021) (14)
- Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy (2020) (14)
- An observational study of fixed-dose Tanacetum parthenium nutraceutical preparation for prophylaxis of pediatric headache (2019) (14)
- Psychiatric comorbidities in patients from seven families with autosomal dominant cortical tremor, myoclonus, and epilepsy (2016) (14)
- Rasmussen's encephalitis: From immune pathogenesis towards targeted-therapy (2020) (14)
- From migralepsy to ictal epileptic headache: the story so far (2013) (14)
- Different electroclinical picture of generalized epilepsy in two families with 15q13.3 microdeletion (2013) (14)
- Results From an Italian Expanded Access Program on Cannabidiol Treatment in Highly Refractory Dravet Syndrome and Lennox–Gastaut Syndrome (2021) (14)
- An international pilot study of an internet‐based platform to facilitate clinical research in epilepsy: The EpiNet project (2012) (14)
- Epileptic seizures can follow high doses of oral vardenafil (2006) (14)
- Lamotrigine induced Brugada-pattern in a patient with genetic epilepsy associated with a novel variant in SCN9A. (2020) (13)
- Electroclinical findings and long‐term outcomes in epileptic patients with inv dup (15) (2018) (13)
- From “migralepsy” to “ictal epileptic headache” concept (2012) (13)
- Clinical dissection of childhood occipital epilepsy of Gastaut and prognostic implication (2016) (13)
- Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development (2020) (13)
- Ictal EEG patterns in epilepsy with centro-temporal spikes (2011) (13)
- The α2δ Subunit and Absence Epilepsy: Beyond Calcium Channels? (2017) (13)
- Interictal and periictal headache in patients with epilepsy: migraine‐triggered seizures or epilepsy‐triggered headache? (2013) (13)
- Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants (2020) (13)
- Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features (2020) (13)
- Periventricular heterotopia in 6 q terminal deletion syndrome : role of the C 6 orf 70 gene (2013) (13)
- Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort (2018) (13)
- Clinical dissection of early onset absence epilepsy in children and prognostic implications (2013) (13)
- LC-MS/MS-Based Quantification of 9 Antiepileptic Drugs From a Dried Sample Spot Device (2019) (12)
- Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage (2014) (12)
- Variable course of Unverricht-Lundborg disease (2017) (12)
- Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity (2021) (12)
- Aromatic L-amino Acid Decarboxylase (AADC) deficiency: results from an Italian modified Delphi consensus (2021) (12)
- Familial benign nonprogressive myoclonic epilepsies (2009) (12)
- Personalized medicine in epilepsy patients (2018) (12)
- Weight Regain after Discontinuation of Topiramate Treatment in Patients with Migraine: a Prospective Observational Study (2015) (12)
- Genetic heterogeneity in malignant migrating partial seizures of infancy (2014) (12)
- A systems-level analysis highlights microglial activation as a modifying factor in common forms of human epilepsy (2018) (12)
- Climate change and epilepsy: Insights from clinical and basic science studies (2021) (12)
- Willful modulation of brain activity in disorders of consciousness. (2010) (12)
- Treating myoclonic epilepsy in children: state-of-the-art (2013) (12)
- Spinal motor neuron involvement in a patient with homozygous PRUNE mutation. (2017) (12)
- Spinal muscular atrophy and progressive myoclonic epilepsy: one case report and characteristics of the epileptic syndrome (2004) (12)
- 22‐YEAR‐OLD GIRL WITH STATUS EPILEPTICUS AND PROGRESSIVE NEUROLOGICAL SYMPTOMS (2009) (12)
- Sex-specific disease modifiers in juvenile myoclonic epilepsy (2022) (11)
- Epileptic myoclonus as ciprofloxacin‐associated adverse effect (2007) (11)
- Diagnostic Approach to Macrocephaly in Children (2022) (11)
- Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development (2019) (11)
- Pathophysiological Mechanisms in Neurodevelopmental Disorders Caused by Rac GTPases Dysregulation: What’s behind Neuro-RACopathies (2021) (11)
- Gut-microbiota-directed strategies to treat epilepsy: clinical and experimental evidence (2021) (11)
- Periventricular nodular heterotopia in Smith‐Magenis syndrome (2014) (11)
- Intractable epilepsy in Turner syndrome associated with bilateral perisylvian hypoplasia: one case report (2005) (11)
- Bioptically demonstrated Lafora disease without EPM2A mutation: a clinical and neurophysiological study of two sisters (2003) (11)
- Posterior reversible encephalopathy syndrome (PRES) in the parturient with preeclampsia after inadvertent dural puncture. (2008) (11)
- Growth hormone response to arginine test differentiates between two subgroups of Huntington's disease patients (2010) (11)
- Cyclic Vomiting Syndrome in Children (2020) (11)
- “Ictal epileptic headache” and the revised International Headache Classification (ICHD-3) published in Cephalalgia 2018, vol. 38(1) 1–211: Not just a matter of definition! (2018) (11)
- Targeted Molecular Therapies for SBMA (2016) (11)
- Partial monosomy Xq(Xq23→qter) and trisomy 4p(4p15.33→pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features (2008) (11)
- PTSD in parents of children with severe diseases: a systematic review to face Covid-19 impact (2021) (11)
- Control of backbone chemistry and chirality boost oligonucleotide splice switching activity (2022) (11)
- Panayiotopoulos syndrome with convulsive status epilepticus at the onset: A long-term study (2014) (10)
- GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features (2006) (10)
- Update on pharmacotherapy of myoclonic seizures (2017) (10)
- A systems‐level analysis highlights microglial activation as a modifying factor in common epilepsies (2021) (10)
- Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations (2020) (10)
- Assessing the role of rare genetic variants in drug‐resistant, non‐lesional focal epilepsy (2021) (10)
- Copy number variations and susceptibility to lateral temporal epilepsy: A study of 21 pedigrees (2014) (10)
- Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients. (2020) (10)
- A genome‐wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine (2019) (10)
- Cognitive, adaptive, and behavioral effects of adjunctive rufinamide in Lennox–Gastaut syndrome: A prospective observational clinical study (2020) (9)
- Association of intronic variants of the KCNAB1 gene with lateral temporal epilepsy (2011) (9)
- Diagnostic and therapeutic approach to drug-resistant juvenile myoclonic epilepsy (2021) (9)
- Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood (2022) (9)
- Electroclinical features of epilepsy in patients with InvDup(15) (2017) (9)
- Medical management for neurosurgical related seizures (2017) (9)
- Adult phenotype of KCNQ2 encephalopathy (2021) (9)
- A further contribution to the delineation of epileptic phenotype in PACS2-related syndrome (2020) (9)
- A proof‐of‐concept trial of the whey protein alfa‐lactalbumin in chronic cortical myoclonus (2011) (9)
- Plasma pNfH levels differentiate SBMA from ALS (2019) (9)
- Structural network alterations in focal and generalized epilepsy assessed in a worldwide ENIGMA study follow axes of epilepsy risk gene expression (2022) (9)
- Temporal lobe epilepsy and hippocampal malrotation: Is there a causal association? (2010) (9)
- Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation (2005) (9)
- ARHGEF9 mutations cause a specific recognizable X-linked intellectual disability syndrome (2017) (9)
- Co-existence of primary hyperparathyroidism and Parkinson's disease in three patients: an incidental finding? (2011) (9)
- Potential role of brivaracetam in pediatric epilepsy (2020) (9)
- Cannabidiol Determination on Peripheral Capillary Blood Using a Microsampling Method and Ultra-High-Performance Liquid Chromatography Tandem Mass Spectrometry with On-Line Sample Preparation (2020) (9)
- Early-onset absence epilepsy aggravated by valproic acid: a video-EEG report (2013) (9)
- Reflex myoclonic epilepsy in infancy: A multicenter clinical study (2013) (9)
- Autosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis. (2016) (9)
- Suicide-related events in patients treated with antiepileptic drugs. (2010) (9)
- Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients (2022) (8)
- Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations (2018) (8)
- Apneic crises: a clue for MECP2 testing in severe neonatal hypotonia-respiratory failure. (2012) (8)
- Targeted next generation sequencing as a diagnostic tool in 644 childhood epilepsy patients and transmission of variants from mosaic parents (2017) (8)
- Autosomal dominant cortical tremor, myoclonus, and epilepsy: is the origin in the cerebellum? Editorial (2013) (8)
- Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan Syndrome (2021) (8)
- Glioneuronal tumors and epilepsy in children: seizure outcome related to lesionectomy. (2013) (8)
- GABA strikes down again in epilepsy. (2019) (8)
- Genomic and clinical predictors of lacosamide response in refractory epilepsies (2019) (8)
- Interpretable surface-based detection of focal cortical dysplasias: a Multi-centre Epilepsy Lesion Detection study (2022) (8)
- A small-molecule Nrf 1 and Nrf 2 activator mitigates polyglutamine toxicity in spinal and bulbar muscular atrophy (2016) (8)
- Epilepsy Towards the Next Decade (2015) (8)
- Intragenic Microdeletion of ULK4 and Partial Microduplication of BRWD3 in Siblings with Neuropsychiatric Features and Obesity (2018) (8)
- Electroclinical features of epilepsy monosomy 1p36 syndrome and their implications (2018) (8)
- Autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy. (2013) (7)
- Antiepileptic Drugs Under Investigation for Treatment of Focal Epilepsy (2016) (7)
- Long-term follow-up in pediatric patients with paroxysmal hypothermia (Shapiro's syndrome). (2018) (7)
- New Trends and Most Promising Therapeutic Strategies for Epilepsy Treatment (2021) (7)
- UHPLC-MS/MS Analysis of Cannabidiol and Its Metabolites in Serum of Patients with Resistant Epilepsy Treated with CBD Formulations (2021) (7)
- Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia. (2021) (7)
- A synaptic protein defect associated with reflex seizure disorder (2018) (7)
- Epilepsy Course and Developmental Trajectories in STXBP1-DEE (2022) (7)
- Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum (2021) (7)
- Clinico-diagnostic features of neuralgic amyotrophy in childhood (2020) (7)
- Antidepressant effect of vagal nerve stimulation in epilepsy patients: a systematic review (2020) (7)
- LESIONAL REFLEX EPILEPSY ASSOCIATED WITH THE THOUGHT OF FOOD (2010) (7)
- Ictal epileptic headache: Terms do matter in clinical practice! Reply to Cianchetti et al (2013) (7)
- Emerging treatments for progressive myoclonus epilepsies (2020) (7)
- Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents (2018) (7)
- Genetic epilepsies. (2011) (7)
- Managing CLN2 disease: a treatable neurodegenerative condition among other treatable early childhood epilepsies (2021) (7)
- Progressive Myoclonus Epilepsy: The Gene-Empowered Era. (2016) (7)
- Adjunctive Rufinamide in Children with Lennox-Gastaut Syndrome: A Literature Review (2020) (7)
- Minors and a Dawning Paradigm Shift in “Pediatric” Drug Development (2020) (7)
- Early-onset versus typical childhood absence epilepsy: Are they all the same thing? (2012) (7)
- Familial cortical tremor and epilepsy: A well-defined syndrome with genetic heterogeneity waiting for nosological placement in the ILAE classification (2010) (7)
- Genetic analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe epilepsy (2006) (6)
- ‘Autoimmune epilepsy’ or exasperated search for the etiology of seizures of unknown origin? (2012) (6)
- “Comorbidity” between epilepsy and headache/migraine: the other side of the same coin! (2011) (6)
- A reappraisal of the value of video-EEG recording in the emergency department (2020) (6)
- Chitosan may decrease serum valproate and increase the risk of seizure reappearance (2009) (6)
- Do regulatory regions matter in FOXG1 duplications? (2012) (6)
- Correction: The landscape of epilepsy-related GATOR1 variants (2018) (6)
- Is Covid-19 lockdown related to an increase of accesses for seizures in the emergency department? An observational analysis of a paediatric cohort in the Southern Italy (2020) (6)
- Ocular phenotype and electroretinogram abnormalities in Lafora disease (2018) (6)
- Eligibility criteria for pediatric patients who may benefit from anti SARS-CoV-2 monoclonal antibody therapy administration: an Italian inter-society consensus statement (2022) (6)
- ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model. (2022) (6)
- Distal motor neuropathy associated with novel EMILIN1 mutation (2020) (6)
- Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. (2018) (6)
- Role of Common Genetic Variants for Drug-Resistance to Specific Anti-Seizure Medications (2021) (6)
- Familial adult myoclonic epilepsy: A new expansion repeats disorder (2019) (6)
- Functional Gastrointestinal Disorders in Patients With Epilepsy: Reciprocal Influence and Impact on Seizure Occurrence (2021) (6)
- Reading epilepsy and its variants: A model for system epilepsy (2011) (6)
- Psychiatric features in gelastic epilepsy and hypothalamic hamartoma: long-term psychodiagnostic observations (2014) (6)
- Expanding the phenotype of PIGS‐associated early onset epileptic developmental encephalopathy (2021) (6)
- An Open Retrospective Study of a Standardized Cannabidiol Based-Oil in Treatment-Resistant Epilepsy (2020) (6)
- De novo variants in neurodevelopmental disorders with epilepsy (2018) (6)
- Progressive Myoclonus Epilepsies: State of the Art (2017) (6)
- Topiramate-associated worsening symptoms in a patient with familial hemiplegic migraine (2008) (6)
- Is It Migralepsy? Still Don't Know (2015) (6)
- Dramatic response to levetiracetam in post-ischaemic Holmes’ tremor (2009) (6)
- The Broad Clinical Spectrum of Epilepsies Associated With Protocadherin 19 Gene Mutation (2022) (6)
- Magnetic Resonance Imaging “Tigroid Pattern” in Alexander Disease (2012) (6)
- Epilepsy: Old drugs do the trick in childhood absence epilepsy (2010) (6)
- ADAM23, a Gene Related to LGI1, Is Not Linked to Autosomal Dominant Lateral Temporal Epilepsy (2010) (6)
- Complex Neurological Phenotype Associated with a De Novo DHDDS Mutation in a Boy with Intellectual Disability, Refractory Epilepsy, and Movement Disorder (2020) (6)
- Epilepsy: Common and rare epilepsies share genetic determinants (2017) (5)
- Idebenone: a guide to its use in Alzheimer’s disease, other age-related cognitive disorders and Friedreich’s ataxia (2010) (5)
- Ictal blinking, an under-recognized phenomenon: our experience and literature review (2017) (5)
- The microbiota‐gut‐brain axis and epilepsy from a multidisciplinary perspective: Clinical evidence and technological solutions for improvement of in vitro preclinical models (2022) (5)
- Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients (2020) (5)
- Juvenile myoclonic epilepsy and Brugada type 1 ECG pattern associated with (a novel) plakophillin 2 mutation (2017) (5)
- From the Ancient Diets to the Recent Acquisitions on the Role of Brain Inflammation in Epilepsy, Are there Any Links? (2015) (5)
- Migraine and epilepsy terminology and classification: opening Pandora’s box (2013) (5)
- Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study (2021) (5)
- Neurological features and long-term follow-up in 15q11.2-13.1 duplication. (2013) (5)
- Early-Onset Shapiro Syndrome Variant Treated with Pizotifen: A Case Report (2017) (5)
- Clinical evolution and epilepsy outcome in three patients with CDKL5-related developmental encephalopathy. (2019) (5)
- Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss. (2021) (5)
- Alterations in the α2δ ligand, thrombospondin‐1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies (2017) (5)
- A Volumetric Absorptive Microsampling Technique to Monitor Cannabidiol Levels in Epilepsy Patients (2020) (5)
- De novo GRIN2A variants associated with epilepsy and autism and literature review (2022) (5)
- Targeted Resequencing of Epilepsy Genes: A Pharmaco-Therapeutic Perspective (2014) (5)
- Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy. (2022) (5)
- The genetic basis of juvenile myoclonic epilepsy (2018) (5)
- Targeting Inflammatory Mediators in Epilepsy: A Systematic Review of Its Molecular Basis and Clinical Applications (2022) (5)
- Electroclinical Features and Long-term Seizure Outcome in Patients With Eyelid Myoclonia With Absences (2022) (5)
- Network for Therapy in Rare Epilepsies (NETRE): Lessons From the Past 15 Years (2021) (5)
- Early-Onset Epileptic Encephalopathy in infants with different forms of Congenital Disorders of Glycosylation (CDG) (2017) (5)
- Abstracts from the 22nd Annual Meeting of the North American Neuromodulation Society (2019) (5)
- CASK related disorder: Epilepsy and developmental outcome. (2021) (5)
- Todd Paralysis in Rolandic Epilepsy (2015) (5)
- Cortical tremor: a tantalizing conundrum between cortex and cerebellum. (2020) (5)
- Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations (2021) (5)
- The Vitamin D Role in Preventing Primary Headache in Adult and Pediatric Population (2021) (5)
- Movement disorders phenomenology in focal motor seizures. (2019) (5)
- Epilepsy: HLA alleles linked to carbamazepine hypersensitivity (2011) (5)
- Epilepsy: A 'going ape' model for SUDEP? (2009) (5)
- Seizure or migraine? The eternal dilemma (2011) (5)
- A pharmacogenomic assessment of psychiatric adverse drug reactions to levetiracetam (2022) (4)
- Commentary to: “Evaluation of serum lipids and carotid artery intima media thickness in epileptic children treated with valproic acid” (2009) (4)
- Novel therapeutic options for Dravet and Lennox-Gastaut syndrome (2020) (4)
- Generalized epilepsy and mild intellectual disability associated with 13q34 deletion: A potential role for SOX1 and ARHGEF7 (2018) (4)
- How to select the appropriate pharmacotherapy for absence seizures in children (2018) (4)
- EpiNet as a way of involving more physicians and patients in epilepsy research: Validation study and accreditation process (2017) (4)
- Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review (2020) (4)
- Extreme startle and photomyoclonic response in severe hypocalcaemia. (2014) (4)
- Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy (2021) (4)
- Abnormal sensorimotor cortex and thalamo-cortical networks in familial adult myoclonic epilepsy type 2: pathophysiology and diagnostic implications (2022) (4)
- Intramuscular Midazolam for treatment of Status Epilepticus (2020) (4)
- De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy (2017) (4)
- New terminology for headache/migraine as the sole ictal epileptic manifestation: The downsides. Reply to Cianchetti et al. (2013) (4)
- Genomic sequencing in severe epilepsy: a step closer to precision medicine (2020) (4)
- Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage‐gated sodium channel function (2021) (4)
- Is retinal assessment useful in epileptic patients with hyperhomocysteinemia? (2009) (4)
- Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy (2022) (4)
- COVID-19 and Treatment and Immunization of Children—The Time to Redefine Pediatric Age Groups is Here (2021) (4)
- De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females (2020) (4)
- Comment to: Overlap cases of eyelid myoclonia with absences and juvenile myoclonic epilepsy (2007) (4)
- Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X (2022) (4)
- Is it migralepsy? No evidence yet (2013) (4)
- Epileptogenesis due to Peripheral Injury as a Cause of Focal Epilepsy (2006) (4)
- Hyperhomocysteinemia and retinal vascular changes in patients with epilepsy (2008) (4)
- Early classification of childhood focal idiopathic epilepsies: is it possible at the first seizure? (2014) (4)
- Structural mapping of GABRB3 variants reveals genotype-phenotype correlation (2021) (4)
- Do pure absence seizures occur in myoclonic epilepsy of infancy? A case series (2015) (4)
- No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy (2019) (4)
- No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy (2015) (4)
- STXBP1 Syndrome Is Characterized by Inhibition-Dominated Dynamics of Resting-State EEG (2021) (4)
- Gelastic seizures not associated with hypothalamic hamartoma: A long-term follow-up study (2020) (4)
- Rapid effect of levetiracetam in a case of juvenile myoclonic epilepsy (2009) (4)
- Proteostasis and Diseases of the Motor Unit (2016) (4)
- DNA binding modes influence Rap1 activity in the regulation of telomere length and MRX functions at DNA ends (2019) (4)
- Abnormal circadian rhythm in patients with GRIN1-related developmental epileptic encephalopathy. (2019) (3)
- Sudden death in Unverricht–Lundborg patients: is serotonin the key? (2010) (3)
- Polyglutamine-expanded androgen receptor disrupts muscle triad, calcium dynamics and the excitation-contraction coupling gene expression program (2019) (3)
- Progressive Myoclonus Epilepsies (2021) (3)
- Temporal-parietal-occipital epilepsy in GEFS+ associated with SCN1A mutation. (2021) (3)
- A nationwide study on Sydenham's chorea: Clinical features, treatment and prognostic factors. (2021) (3)
- Improving clinical paediatric research and learning from COVID-19: recommendations by the Conect4Children expert advice group (2021) (3)
- Vitamin B12, folate and hyperhomocysteinemia in patients with epilepsy (2011) (3)
- Vascular risk in epilepsy patients: is antiepileptic treatment the key? (2012) (3)
- A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms (2010) (3)
- Non-pharmacological treatments for pediatric refractory epilepsies (2022) (3)
- Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy (2021) (3)
- Epilepsy in “Sunflower syndrome”: electroclinical features, therapeutic response, and long-term follow-up (2021) (3)
- AR cooperates with SMAD4 to maintain skeletal muscle homeostasis (2022) (3)
- Modelling Neuromuscular Diseases in the Age of Precision Medicine (2020) (3)
- Follow-up study of idiopathic generalized epilepsy with associated absence seizure and myoclonic epilepsy of infancy (2017) (3)
- Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy (2022) (3)
- Intravenous carbamazepine for the treatment of epilepsy (2018) (3)
- Comment to: Status epilepticus induced by star fruit intoxication in patients with chronic renal disease (2006) (3)
- Impact and management of drooling in children with neurological disorders: an Italian Delphi consensus (2022) (3)
- Dravet syndrome (2016) (3)
- Familial nonkinesigenic paroxysmal dyskinesia and intracranial calcifications: A new syndrome? (2010) (3)
- Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report (2021) (3)
- “Ictal epileptic headache” is certainly a seizure which manifests itself only as headache (2016) (3)
- Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy (2021) (3)
- GLUT1 deficiency and pediatric-onset hereditary spastic paraplegia: A new association. (2019) (3)
- Teaching NeuroImages: Figure of 8 (2017) (3)
- Corrigendum to the Letter “Temporal lobe epilepsy and hippocampal malrotation: Is there a causal association?” [Epilepsy & Behavior 18 (2010) 502–504] (2011) (3)
- Comment to: Addition of verapamil in the treatment of severe myoclonic epilepsy in infancy (Iannetti et al.) (2009) (3)
- Posterior reversible encephalopathy syndrome and spinal epidural haematoma in a hypertensive patient. (2007) (3)
- Sleep Disorders in Rett Syndrome and Rett-Related Disorders: A Narrative Review (2022) (3)
- Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants (2021) (3)
- Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants (2022) (3)
- Usefulness of video-EEG in the paediatric emergency department (2014) (3)
- Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency (2022) (3)
- Topographic divergence of atypical cortical asymmetry and atrophy patterns in temporal lobe epilepsy (2021) (3)
- Using common genetic variants to find drugs for common epilepsies (2021) (3)
- Exploring treatments for drooling in children with neurological disorders (2020) (3)
- A review of safety and efficacy of zonisamide for treatment of pediatric partial epilepsy (2014) (3)
- Chromosome 15q BP4–BP5 Deletion in a Girl with Nocturnal Frontal Lobe Epilepsy, Migraine, Circumscribed Hypertrichosis, and Language Impairment (2020) (2)
- Atypical Presentation of Aromatic L-Amino Acid Decarboxylase Deficiency with Developmental Epileptic Encephalopathy (2021) (2)
- 31 Pathophysiology of Myoclonic Seizures (2010) (2)
- Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutations (2022) (2)
- Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes (2022) (2)
- Lumping encephalopathies with inflammation-mediated status epilepticus: Is there enough evidence? (2011) (2)
- Acute Neurological Presentation in Children With SARS-CoV-2 Infection (2022) (2)
- Idiopathic mesial temporal lobe epilepsy: Don't sow the tares with the wheat! (2010) (2)
- The growing landscape of ictal epileptic headache (2018) (2)
- Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series (2022) (2)
- Rhombencephalosynapsis in a patient with mental retardation, epilepsy, and dysmorphisms (2011) (2)
- How Knowledge on Microbiota may be Helpful to Establish an Optimal Diet for Health Maintenance (2018) (2)
- Gut microbiota and psychogenic non-epileptic seizures: i can feel it in the belly (2019) (2)
- Posterior cortical atrophy with prominent alexia without agraphia in a Tourette syndrome (2011) (2)
- A randomized, double‐blind trial of triheptanoin for drug‐resistant epilepsy in glucose transporter 1 deficiency syndrome (2022) (2)
- Reply to ‘Hitting two birds with one stone: daily scheduled opiods in preventing migraine and migraine‐related epilepsy (migralepsy)’ (2016) (2)
- A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome (2022) (2)
- Plasma pNfH differentiate SBMA from ALS (2019) (2)
- Functional changes in hypothalamic hamartoma neurons and gelastic epilepsy (2011) (2)
- An update on brivaracetam for the treatment of pediatric partial epilepsy (2021) (2)
- A 3‐YEAR‐OLD BOY WITH DRUG‐RESISTANT COMPLEX PARTIAL SEIZURES (2012) (2)
- Comment on “Factors influencing clinical features of absence seizures” (2009) (2)
- Precision medicine in early-onset epilepsy: the KCNQ2 paradigm (2020) (2)
- Gain-of-function p.F28S variant in RAC3 disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorder (2022) (2)
- Comorbidities in Dravet Syndrome and Lennox–Gastaut Syndrome (2021) (2)
- PIGN encephalopathy: Characterizing the epileptology (2022) (2)
- Gangliosides in the treatment of diabetic neuropathy: A randomized, double-blind, placebo-controlled, dose-finding study (1992) (2)
- Switching to eslicarbazepine acetate in patients with epilepsy: a field-practice observation (2017) (2)
- Early onset absence epilepsy: What changes using Panayiotopoulos's criteria? (2013) (2)
- Improving Therapy of Pharmacoresistant Epilepsies: The Role of Fenfluramine (2022) (2)
- Pearls & Oy-sters: Hemicrania epileptica: Unfolding the mystery of an unremitting migraine (2016) (2)
- mGlu3 metabotropic glutamate receptors as a target for the treatment of absence epilepsy: preclinical and human genetics data. (2022) (2)
- Epilepsy, electroclinical features, and long‐term outcomes in Pitt–Hopkins syndrome due to pathogenic variants in the TCF4 gene (2021) (2)
- Heterozygous variants in KCNC2 cause a broad spectrum of epilepsy phenotypes associated with characteristic functional alterations (2021) (2)
- Klaus Rose. Considering the Patient in Pediatric Drug Development: How Good Intentions Turned into Harm (2021) (2)
- Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI‐anchored proteins (2021) (2)
- An Italian consensus on the management of Lennox-Gastaut syndrome (2022) (2)
- De novo Absence Status Epilepticus in a pediatric cohort: Electroclinical pattern in a multicenter Italian patients cohort (2019) (2)
- Targeting the MGBA with -biotics in epilepsy: New insights from preclinical and clinical studies (2022) (2)
- Is benign familial neonatal KCNQ2-related epilepsy always familially benign? (2018) (1)
- MELD Project: Atlas of lesion locations and postsurgical seizure freedom in focal cortical dysplasia (2021) (1)
- The Confirming Evidence for Ictal Epileptic Headache (2019) (1)
- ictal blinking , an underrecognized phenomenon : our experience and literature review (2017) (1)
- Perampanel as precision therapy in rare genetic epilepsies (2023) (1)
- Translational veterinary epilepsy: A win-win situation for human and veterinary neurology. (2023) (1)
- Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities. (2022) (1)
- Corrigendum to “Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant” [Seizure 25 (2015) 65–67] (2015) (1)
- Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal‐onset Cockayne syndrome features (2018) (1)
- Exploring the strengths and weakness of the ictal epileptic headache criteria (2017) (1)
- E03 Determinants of survival in Huntington's disease (2010) (1)
- LSD1/PRMT6-targeting gene therapy to attenuate androgen receptor toxic gain-of-function ameliorates spinobulbar muscular atrophy phenotypes in flies and mice (2023) (1)
- Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development (2022) (1)
- OPL174 Late onset and slow progressing Lafora Disease in four siblings with EPM2B mutation (2005) (1)
- Comparison of Qualitative and Quantitative Analyses of MR-Arterial Spin Labeling Perfusion Data for the Assessment of Pediatric Patients with Focal Epilepsies (2022) (1)
- A pathway to precision therapy even for mitochondrial myoclonic epilepsy (2019) (1)
- Effectiveness of perampanel as the only add‐on: Retrospective, multicenter, observational real‐life study on epilepsy patients (2022) (1)
- Eyelid myoclonia with absences (Jeavons syndrome): still an overlooked epilepsy syndrome. Comments to Covanis review in this issue of Journal of Epileptology (2015) (1)
- Late epileptic seizures following cerebral venous thrombosis: a systematic review and meta-analysis (2022) (1)
- Whole-exome sequencing to disentangle the complex genetics of hippocampal sclerosis–temporal lobe epilepsy (2018) (1)
- Ketamine as advanced second‐line treatment in benzodiazepine‐refractory convulsive status epilepticus in children (2023) (1)
- To Fix or Not to Fix: Maintenance of Chromosome Ends Versus Repair of DNA Double-Strand Breaks (2022) (1)
- Immediate and progressive neurological damage after electrical injury: A pediatric case report (2022) (1)
- Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review (2022) (1)
- Insulinoma Presenting as Refractory Late‐onset Epilepsy (2006) (1)
- Comment on: A review of the experience with pediatric written requests issued for oncology drug products (2021) (1)
- Pelizaeus–Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation (2019) (1)
- Should children over 12 years have an EEG after a single unprovoked epileptic seizure? (2018) (1)
- Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals. (2021) (1)
- Therapeutic aspects of Sydenham’s Chorea: an update (2021) (1)
- Importance of post-mortem genetic testing in SUDEP patients (2013) (1)
- S.P.57 Duchenne muscular dystrophy and epilepsy (2012) (1)
- Multiorgan mitochondrial dysfunction is not a main feature of MFN2 mutations (Reply to: CMT2 due to homozygous MFN2 variants is a multiorgan mitochondrial disorder). (2018) (1)
- A reappraisal of atypical absence seizures in children and adults: therapeutic implications (2019) (1)
- HCN1 Gain-Of-Function Mutations - A New Cause of Epileptic Encephalopathy (2014) (1)
- Dystrophin involvement in peripheral circadian SRF signalling (2021) (1)
- Erratum: Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy (Epilepsia (2013) 54 (256-264) DOI:10.1111/epi.12517) (2013) (1)
- A validation study of the clinical diagnosis of Dup15q syndrome: Which symptoms matter most? (2019) (1)
- Reply to “Epilepsies in children—the power of making a syndrome diagnosis” (2008) (1)
- Enhanced K-complex: An EEG features supporting the concept of system epilepsy (Comment to: Si et al.) (2011) (1)
- The Role of the Protein Quality Control System in SBMA (2015) (1)
- Current and promising therapeutic options for Dravet syndrome (2022) (1)
- Pediatric SARS-CoV-2–Related Diplopia and Mesencephalic Abnormalities (2022) (1)
- Pediatric Moyamoya Disease and Syndrome in Italy: A Multicenter Cohort (2022) (1)
- Speeding up disease diagnosis: a reliable option for the epileptologist? (2013) (1)
- Ictal epileptic headache: Moving forward. Reply to Cianchetti et al. (2014) (1)
- Spectrum of epilepsy with eyelid myoclonia: Delineation of disease subtypes from a large multicenter study (2022) (1)
- Determining the pathogenicity of variants of uncertain significance and identification of a founder variant in the epilepsy-associated gene, SZT2 (2021) (1)
- In response: DEPDC5 mutations in epilepsy with auditory features (2016) (1)
- Event‐based modeling in temporal lobe epilepsy demonstrates progressive atrophy from cross‐sectional data (2022) (1)
- Journal Pre-proof Increased efficacy of combining prebiotic and postbiotics approaches in mouse models relevant to autism and depression (2021) (1)
- The DNA damage checkpoint: A tale from budding yeast (2022) (1)
- The Clinical Impact of Methotrexate-Induced Stroke-Like Neurotoxicity in Paediatric Departments: An Italian Multi-Centre Case-Series (2022) (1)
- Correction to: The landscape of epilepsy-related GATOR1 variants (2018) (1)
- The “plus” side of epilepsy phenotyping (2017) (1)
- Unilateral Lisch nodules in a pediatric patient: a sign for genetic mosaicism? (2020) (1)
- SCAR in the ATS: Conflict or Harmony? (1991) (1)
- Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stage (2022) (1)
- Symptomatic eating epilepsy: two novel pediatric patients and review of literature (2021) (1)
- A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease. (2022) (0)
- Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders (2022) (0)
- Deep learning for neonatal seizure detection: a friend rather than foe. (2020) (0)
- FROM DISEASE GENE IDENTIFICATION TO THERAPEUTIC TARGETS IN NEUROMUSCULAR DISEASES (2014) (0)
- Brivaracetam add-on treatment in pediatric patients with severe drug-resistant epilepsy: Italian real-world evidence (2022) (0)
- Biallelic and de novo variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy (2021) (0)
- X-Linked Recessive Axonal Neuropathy with Deafness and Cognitive Impairment (Cowchock Syndrome) Is Associated with Mutation in AIFM1 (S07.007) (2012) (0)
- F20 Evaluating body mass composition in huntington's disease by dexa (2010) (0)
- The different clinical facets of SYN1-related neurodevelopmental disorders (2022) (0)
- Case Report: Effect of Targeted Therapy With Carbamazepine in KCNQ2 Neonatal Epilepsy (2022) (0)
- Targeted Molecular Therapies for SBMA (2015) (0)
- Bernabé J. Quartino (1925- 2003) (2003) (0)
- Peripheral Arterial Tonometry (EndoPAT)-measured Endothelial Dysfunction in Migraine with Aura children (2021) (0)
- Biallelic and de novo variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy (2021) (0)
- Geografía Argentina: Introducción (2018) (0)
- Reply to Rubolotta et al.: End-of-life: still a legal international dilemma (2009) (0)
- The genetics of self-limited focal epilepsies. (2020) (0)
- Epilepsy : A Complex Disease with Several Potential Therapeutic Targets Epilepsy and pharmacogenetics (2014) (0)
- Atypical Features in a Spinal and Bulbar Muscular Atrophy Patient with a 68 CAG Repeat (P1.087) (2014) (0)
- Erratum to “De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy” [Seizure 57 (2018) 63–65] (2018) (0)
- Idebenone and Friedreich Ataxia (2010) (0)
- Strategies to shorten diagnostic delays for late infantile neuronal ceroid lipofuscinosis type 2 (CLN2 disease) (2020) (0)
- P577: Gene panels for skeletal dysplasia and epilepsy: Maximizing clinical utility through careful design, regular review, and clinician-laboratory collaboration (2023) (0)
- Atypical presentation of sunflower epilepsy featuring an EEG pattern of continuous spike waves during slow-wave sleep. (2021) (0)
- Mechanisms of pathogenesis and molecular targets in spinal and bulbar muscular atrophy (2016) (0)
- Dystrophin regulates peripheral circadian SRF signalling (2021) (0)
- Editorial Comment to Castration‐resistant prostate cancer diagnosed during leuprorelin treatment for spinal and bulbar muscular atrophy (2022) (0)
- Focal unilateral polymicrogyria and epilepsy surgery. (2017) (0)
- Structural network alterations in focal and generalized epilepsy follow axes of epilepsy risk gene expression: An ENIGMA study (2021) (0)
- Case report: LAMC3-associated cortical malformations: Case report of a novel stop-gain variant and literature review (2023) (0)
- AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders (2019) (0)
- A small-molecule activator of Hsf1, Nrf1, and Nrf2 mitigates polyglutamine toxicity in spinal and bulbar muscular atrophy models (S34.006) (2015) (0)
- Novel treatment perspectives from advances in understanding of genetic epilepsy syndromes (2016) (0)
- Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2 (2016) (0)
- L02 Insulin sensitivity and early-phase insulin secretion in normoglycemic patients with huntington's disease (2012) (0)
- Correction: The landscape of epilepsy-related GATOR1 variants (2018) (0)
- Non-Neuromuscular Manifestations of Spinal and Bulbar Muscular Atrophy (P7.054) (2015) (0)
- The burden of illness in Lennox–Gastaut syndrome: a systematic literature review (2023) (0)
- Epileptic encephalopathies: & related syndromes in children K.Yu. Mukhin (2015) (0)
- Cardiovascular disease in epileptic patients: How to assess the clinical risk? (2009) (0)
- Therapy and Clinical Course in 52 Patients with PCDH19 Mutations (2015) (0)
- Targeting the 5′ untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy (2021) (0)
- Editorial: Insights in pediatric neurology: 2021 (2022) (0)
- Similar but not identical: Clinical implications for molecular studies in monozygotic discordant twins with epilepsy (2011) (0)
- Children grow-up... (2008) (0)
- Epidemiology and familial clustering of pediatric epilepsy in the geographic isolate of Ischia (2019) (0)
- Efficacy and Safety of Fenfluramine in Epilepsy: A Systematic Review and Meta-analysis (2023) (0)
- Cannabidiol Add-On in Glycosylphosphatidylinositol-Related Drug-Resistant Epilepsy. (2023) (0)
- PSYCHIATRIC ASPECTS IN FAMILIES WITH AUTOSOMAL DOMINANT CORTICAL TREMOR, MYOCLONUS AND EPILEPSY (2015) (0)
- Pharmacokinetic considerations surrounding the use of levetiracetam for seizure prophylaxis in neurocritical care – an overview (2022) (0)
- 3.070 AUTOSOMAL DOMINANT CORTICAL MYOCLONUS AND EPILEPSY (ADCME) - NEW MUTATION IN POLISH FAMILY? (2012) (0)
- A solved puzzle: Familial Adult Myoclonus Epilepsy is a new expansion repeats disorder. (2023) (0)
- Systematic analysis and prediction of genes associated with disorders on chromosome X (2022) (0)
- Type I PRMT inhibitor MS023 promotes SMN2 exon 7 inclusion and synergizes with nusinersen to rescue the phenotype of SMA mice (2022) (0)
- A real-life pilot study of the clinical application of pharmacogenomics testing on saliva in epilepsy. (2023) (0)
- Correction to: Comorbidities in Dravet Syndrome and Lennox–Gastaut Syndrome (2021) (0)
- The Pathophysiological Link Between Reelin and Autism: Overview and New Insights (2022) (0)
- Corrigendum to “Reflex myoclonic epilepsy in infancy: A multicenter clinical study” [Epilepsy Res. 103 (2013) 237–244] (2014) (0)
- Hydranencephaly in CENPJ-related Seckel syndrome. (2022) (0)
- Familial Mesial Temporal Lobe Epilepsy (2010) (0)
- Sudden unexpected death in epilepsy. A critical view of the literature. (2023) (0)
- The landscape of epilepsy-related GATOR1 variants (2018) (0)
- Small hypothalamic hamartomas and gelastic seizures. [Published with videosequences]. (2002) (0)
- Autosomal dominant cortical tremor, myoclonus, and epilepsy: is the origin in the cerebellum? Editorial (2012) (0)
- Video game-induced reflex seizures via a smartphone. (2021) (0)
- Review for "Degron capability of the hydrophobic C‐terminus of the polyglutamine disease protein, ataxin‐3" (2019) (0)
- Transient epileptic amnesia: a new epileptic syndrome in development? (2010) (0)
- Additional file 1 of Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project (2020) (0)
- Progressive myoclonus epilepsies : state of the art / edited by Berge A. Minassian, Pasquale Striano and Giuliano Avanzini ; preface by Antonio V. Delgado-Escueta (2017) (0)
- Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort (2017) (0)
- 12th European Congress on Epileptology, Prague, Czech Republic, 11-15 September, 2016. (2016) (0)
- Electroencephalographic findings in ATRX syndrome: A new case series and review of literature. (2022) (0)
- Incoercible topiramate-related vomiting in a patient with epilepsy and mental retardation (2001) (0)
- Short communication Tiagabine in glial tumors (2002) (0)
- History of FAME/BAFME around the world. (2023) (0)
- Provocative Factors (2020) (0)
- Effectiveness and tolerability of Perampanel in children and adolescents with refractory epilepsies - an Italian mulicenter study. (2016) (0)
- De novo KCNA6 variants with attenuated KV 1.6 channel deactivation in patients with epilepsy (2022) (0)
- 154 Autosomal Dominant Cortical Myoclonus and Epilepsy (2010) (0)
- Epileptic Seizures and Supratentorial Brain Tumors in Children (2012) (0)
- Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity (2023) (0)
- Jean Schoenen David W. Dodick (2011) (0)
- Stereotactic Radiosurgery for Treatment of Drug-Resistant Epilepsy: State of the Art and Emerging Applications (2013) (0)
- Corrigendum to “Do pure absence seizures occur in myoclonic epilepsy of infancy? A case series” [Seizure: Eur. J. Epilepsy 24 (2015) 8–11] (2015) (0)
- Extending the Spectrum of KCNQ2 Encephalopathy: Description of 11 Additional Patients (2013) (0)
- Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critical Issues for Personalized Therapy (2018) (0)
- Effectiveness of antiepileptic therapy in catastrophic infantile epilepsy: Comparison of patients with SCN1A and PCDH19 mutations (2013) (0)
- P.193 Phosphoryl guanidine-containing backbone modifications enhance exon skipping, dystrophin restoration and survival in a severe mouse model for DMD (2022) (0)
- ‘On-demand’ gene therapy for epilepsy (2022) (0)
- Reflex Seizures and Reflex Epilepsies (2019) (0)
- Letter to the Editor: Delayed Presentation of Non-COVID-19 Patients During the COVID-19 Pandemic Is Not Limited to Children (2021) (0)
- Effects of three-months folate supplementation on early vascular abnormalities in hyperhomocysteinemic patients with epilepsy (2022) (0)
- A Genome-wide Analysis of Severe Cutaneous Adverse Drug Reactions to Anti-epileptic Drugs (2017) (0)
- De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes (2022) (0)
- “Comment on: A review of the experience with pediatric written requests issued for oncology drug products.” Young patients with malignancies need reasonable studies with therapeutic intention. (2021) (0)
- Erratum to: Treatment and outcome of children with cerebral cavernomas: a survey on 32 patients (2010) (0)
- Cannabidiol Oral Solution – A New Class of Antiseizure Medication (2020) (0)
- Comment to: Diabetic hyperglycemia is associated with the severity of epileptic seizures in adults (2008) (0)
- Reversing Accumulation of Polyglucosan Bodies by Virally Delivered CRISPR/Cas9 Genome Editing (2021) (0)
- Topographic Divergence of Atypical Cortical Asymmetry and Regional Atrophy Patterns in Temporal Lobe Epilepsy: A Worldwide ENIGMA Study (2021) (0)
- Epilepsy, coeliac disease and other inflammatory bowel diseases (2019) (0)
- Familial Adult Myoclonus Epilepsy: clinical findings, disease course and comorbidities. (2023) (0)
- Supplementary Material for: Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome (2016) (0)
- Pediatric Epilepsy Pioneers in Italy (2019) (0)
- Gap Junctions and Epileptogenesis: No Laughing Matter (2016) (0)
- Human mutations in SLITRK3 implicated in GABAergic synapse development in mice (2022) (0)
- Essential headaches in developmental age: What is changed before, during and after the lockdown for COVID-19 pandemic. Clinical study (2023) (0)
- P93 – 2953: Identification of a new mutation of the SCL1A gene in a patient with GLUT1-DS (2015) (0)
- Neurology’s vital role in preventing unnecessary and potentially harmful pediatric studies (2022) (0)
- Low long-term efficacy of the orphan drug Rufinamide in patients with Dravet syndrome (2011) (0)
- Erratum to: Long-term outcome of epilepsy in patients with Prader–Willi syndrome (2014) (0)
- The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism (2013) (0)
- Cannabidiol, ∆9-tetrahydrocannabinol, and metabolites in human blood by volumetric absorptive microsampling and LC-MS/MS following controlled administration in epilepsy patients (2022) (0)
- Long-term effectiveness of add-on perampanel in patients with Lennox-Gastaut syndrome: a multicenter retrospective study. (2023) (0)
- Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications Short SCN8A -related genotype-phenotype correlations (2021) (0)
- Warp speed for COVID-19 drugs and vaccines - time to re-consider how we use the term 'children' (2021) (0)
- Atypical Sturge-Weber syndrome requires confirmation (reply to Zhou et al.). (2013) (0)
- Is epilepsy a real problem in multiple sclerosis patients? (2009) (0)
- White matter abnormalities across different epilepsy syndromes in adults : an ENIGMA Epilepsy study Short Title : White matter across epilepsy syndromes (2020) (0)
- Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data (2017) (0)
- Paroxysmal Nonepileptic Events in Children: A Video Gallery and a Guide for Differential Diagnosis. (2022) (0)
- Answer to: Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy (Amadori E et al., 2022). EJMG-D-22-00384. (2022) (0)
- What is known Today about Nutrition and Microbiota (2022) (0)
- Twist exome capture allows for lower average sequence coverage in clinical exome sequencing (2023) (0)
- Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy (2023) (0)
- Corrigendum to “Lacosamide in pediatric and adult patients: Comparison of efficacy and safety” [Seizure 22 (2013) 210–216] (2014) (0)
- Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. (2021) (0)
- THE ELECTROCLINICAL SEIZURE PATTERN OF BENIGN EPILEPSY WITH CENTROTEMPORAL SPIKES IN 30 PATIENTS (2009) (0)
- Clinical and electroencephalographic features of epilepsy in patients with triple X syndrome: A case series (2022) (0)
- Confirmation of mutations in the PROSC gene as a novel cause of vitamin B6 dependent epilepsy (2017) (0)
- SCN1A and Febrile Seizures in Mesial Temporal Epilepsy: An Early Signal to Guide Prognosis and Treatment? (2014) (0)
- The febrile search for CNV's in epilepsy families. (2020) (0)
- A comprehensive narrative review of epilepsy with eyelid myoclonia (2023) (0)
- Case report: Revascularization failure in NF1-related moyamoya syndrome after selumetinib: A possible pathophysiological correlation? (2023) (0)
- Deciphering the role of CNTNAP2 in cognitive disorders; from molecule to patient (2015) (0)
- Cryptogenic or idiopathic partial epilepsies with auditory seizures (1999) (0)
- Review for "Seizure outcome trajectories in a well‐defined cohort of newly diagnosed juvenile myoclonic epilepsy patients" (2021) (0)
- Teaching Video NeuroImage: Spasmus Nutans, an Infantile Nystagmus (2022) (0)
- Comorbidity in Migraine, Jean Schoenen, David W. Dodick, Peter Sandor (Eds.). Wiley–Blackwell, London (2011), Black and white, Paperback, soft cover, 152 pp. £49.99/€60.00, ISBN: 978-1-4051-8555-4 (2011) (0)
- Stxbp1: Clinical and Genetic Description of 39 New Patients with an Stxbp1 Mutation and Review of Literature (2015) (0)
- P5. A survey on pediatric epilepsy in the Ischia island: epidemiologic and genetic findings (2019) (0)
- Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy. (2022) (0)
- Response to: ‘Cortical tremor or cortical pseudotremor?’ (2005) (0)
- Seizures cluster around genetics. (2020) (0)
- Targeting the 5 0 untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy (2021) (0)
- Anovel KCNQ 3 mutation in familial epilepsy with focal seizures and intellectual disability (2014) (0)
- Epilepsy and Other Clinical Features in a Child with Partial Deletion of Chromosome 15 Q (2018) (0)
- Reply to: “the complex interrelations between two paroxysmal disorders: headache and epilepsy” (2017) (0)
- Efficacy of Rufinamide as Adjunctive Treatment for Adults With Lennox-Gastaut Syndrome: Subgroup Analysis From a Phase III Trial (P2.056) (2016) (0)
- Genotype–phenotype spectrum and correlations in Xia‐Gibbs syndrome: Report of five novel cases and literature review (2022) (0)
- From Genetic Testing to Precision Medicine in Epilepsy (2020) (0)
- De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females (2020) (0)
- Myoclonic epilepsy of infancy related to YWHAG gene mutation: towards a better phenotypic characterization. (2021) (0)
- KCNT2-related disorders: phenotypes, functional and pharmacological properties. (2023) (0)
- Highlights of the issue 9, 2019 (2019) (0)
- Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome (2022) (0)
- The Ku complex promotes DNA end-bridging and this function is antagonized by Tel1/ATM kinase (2023) (0)
- Title Dystrophin regulates peripheral circadian SRF signalling Authors (2021) (0)
- Licorice-associated reversible cerebral vasoconstriction with PRES (2011) (0)
- Expanding the phenotype associated with biallelic SLC20A2 variants. (2023) (0)
- Epilepsy features in ARID1B-related Coffin-Siris syndrome. (2021) (0)
- De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy (2018) (0)
- Sex-based electroclinical differences and prognostic factors in epilepsy with eyelid myoclonia. (2023) (0)
- mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion. (2022) (0)
- OP12 – 2577: Targeted resequencing in epileptic encephalopathies: diagnostic implications and genotype–phenotype correlations (2015) (0)
- Correction to: The landscape of epilepsy-related GATOR1 variants (2018) (0)
- PRES-like leukoencephalopathy presenting with status epilepticus associated with Brentuximab Vedotin treatment (2021) (0)
- Rare coding variants in GABAA receptor encoding genes in genetic generalized epilepsies: an exome-based case-control study (2018) (0)
- GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disorders (2023) (0)
- Corrigendum: Improving therapy of pharmacoresistant epilepsies: The role of fenfluramine (2023) (0)
- Learnings in developmental and epileptic encephalopathies: what do we know? (2023) (0)
- Pediatric moyamoya disease and syndrome in Italy: Data from the Italian Society of Pediatric Neurology multicentric retrospective study (2017) (0)
- Photosensitivity and System Epilepsy (2018) (0)
- Hemidystonia in uncontrolled type 2 diabetes mellitus. (2011) (0)
- Clinical and epilepsy characteristics in Wolf-Hirschhorn syndrome (4p-): A review (2022) (0)
- Editorial: The gut microbiome and epilepsy (2022) (0)
- Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish (2019) (0)
- Cyclic vomiting syndrome in children: a nationwide survey of current practice on behalf of the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition (SIGENP) and Italian Society of Pediatric Neurology (SINP) (2022) (0)
- Editorial: Novel Mechanisms of Epileptogenesis and Its Inspired Pharmaceutical Treatments for Epilepsy (2022) (0)
- Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutations (2022) (0)
- Pediatric Migraine Treatment: An Updated Review (2019) (0)
- Dual diagnosis in a child with familial SCN8A-related encephalopathy complicated by a 1p13.2 deletion involving NRAS gene (2020) (0)
- Extended Glasgow Outcome Scale to Evaluate the Functional Impairment of Patients With Subcortical Band Heterotopia: A Multicentric Cross-sectional Study. (2023) (0)
- [Epilepsy genetics and genetic epilepsies]. (2011) (0)
- Paediatric Allergen-Specific Immunotherapy Studies Required by the European Medicines Agency: Is It Time for a Reassessment? (2022) (0)
- Familial Adult Myoclonus Epilepsy: neuroimaging and neuropathological findings. (2023) (0)
- 167 Familial Mesial Temporal Lobe Epilepsy (2010) (0)
- Familial infantile myoclonic epilepsy (2020) (0)
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What Schools Are Affiliated With Pasquale Striano?
Pasquale Striano is affiliated with the following schools:
