Renzo Guerrini

Q: What Schools Are Affiliated With Renzo Guerrini

Renzo Guerrini is affiliated with the following schools: Consorzio ICoN, University of Florence

Renzo Guerrini's AcademicInfluence.com Rankings

Renzo Guerrini

Biology

#5874

World Rank

#8457

Historical Rank

biology Degrees

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Biology

Renzo Guerrini's Degrees

Doctorate Medicine Consorzio ICoN
PhD Neurology Consorzio ICoN

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Renzo Guerrini'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

The clinicopathologic spectrum of focal cortical dysplasias: A consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission 1 (2011) (1387)
Terminology and classification of the cortical dysplasias (2004) (899)
A developmental and genetic classification for malformations of cortical development: update 2012 (2012) (806)
A developmental and genetic classification for malformations of cortical development (2005) (764)
Classification system for malformations of cortical development (2001) (510)
Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery (2017) (458)
Lamotrigine and Seizure Aggravation in Severe Myoclonic Epilepsy (1998) (429)
Lennox-Gastaut syndrome: a consensus approach on diagnosis, assessment, management, and trial methodology (2009) (371)
Proposed Criteria for Referral and Evaluation of Children for Epilepsy Surgery: Recommendations of the Subcommission for Pediatric Epilepsy Surgery (2006) (371)
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly (2013) (367)
Malformations of cortical development: clinical features and genetic causes (2014) (337)
Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex (2004) (336)
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. (2006) (314)
Congenital bilateral perisylvian syndrome: study of 31 patients (1993) (311)
Mutations of ARX are associated with striking pleiotropy and consistent genotype–phenotype correlation (2004) (296)
De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies. (2017) (272)
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy (2003) (257)
Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study (2018) (256)
Benign familial neonatal‐infantile seizures: Characterization of a new sodium channelopathy (2004) (256)
Early‐onset absence epilepsy caused by mutations in the glucose transporter GLUT1 (2009) (249)
Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options (2008) (234)
X-linked malformations of neuronal migration (1996) (232)
Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. (2006) (227)
The genetics of Dravet syndrome (2011) (227)
A versatile clearing agent for multi-modal brain imaging (2015) (226)
The phenotypic spectrum of SCN8A encephalopathy (2015) (219)
Epilepsy in children (2002) (215)
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy (2015) (211)
Band heterotopia: Correlation of outcome with magnetic resonance imaging parameters (1994) (209)
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. (2010) (206)
Early and effective treatment of KCNQ2 encephalopathy (2015) (201)
Dysplasias of cerebral cortex and epilepsy (1996) (201)
Definition and diagnostic criteria of sleep-related hypermotor epilepsy (2016) (195)
Idiopathic Photosensitive Occipital Lobe Epilepsy (1995) (195)
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. (2013) (192)
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. (2016) (192)
De novo variants in neurodevelopmental disorders with epilepsy (2017) (186)
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome (2005) (182)
De novo mutations in HCN1 cause early infantile epileptic encephalopathy (2014) (182)
Antiepileptic Drug‐Induced Worsening of Seizures in Children (1998) (180)
Angelman syndrome: Correlations between epilepsy phenotypes and genotypes (1998) (177)
Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals (2019) (176)
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome (2011) (172)
Somatic mutations in cerebral cortical malformations. (2014) (171)
Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia. (2009) (168)
Characterization of mutations in the gene doublecortin in patients with double cortex syndrome (1999) (165)
Syndromes of bilateral symmetrical polymicrogyria. (1999) (162)
Idiopathic Epilepsies with Seizures Precipitated by Fever and SCN1A Abnormalities (2007) (162)
Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: a randomised, double-blind, placebo-controlled trial (2019) (162)
SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis (2009) (158)
Diagnostic methods and treatment options for focal cortical dysplasia (2015) (156)
Multilobar polymicrogyria, intractable drop attack seizures, and sleep-related electrical status epilepticus (1998) (155)
Neuronal migration disorders (2010) (155)
Familial perisylvian polymicrogyria: A new familial syndrome of cortical maldevelopment (2000) (150)
Bilateral parasagittal parietooccipital polymicrogyria and epilepsy (1997) (148)
Extending the KCNQ2 encephalopathy spectrum (2013) (143)
Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus (2007) (142)
Aicardi's Epilepsy in Children. (2012) (141)
Autosomal recessive Rolandic epilepsy with paroxysmal exercise‐induced dystonia and writer's cramp: Delineation of the syndrome and gene mapping to chromosome 16p12‐11.2 (1999) (139)
Lack of cortical contrast gain control in human photosensitive epilepsy (2000) (136)
Early‐Onset Benign Occipital Seizure Susceptibility Syndrome (1997) (135)
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. (2012) (134)
Diagnostic Targeted Resequencing in 349 Patients with Drug‐Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes (2017) (133)
Visual Sensitivity and Epilepsy: A Proposed Terminology and Classification for Clinical and EEG Phenomenology (2001) (133)
Genetic malformations of cortical development (2006) (132)
Genotype–phenotype analysis of human frontoparietal polymicrogyria syndromes (2005) (131)
Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures: A newly recognized epilepsy syndrome with linkage to chromosome 2p11.1-q12.2. (2001) (131)
Germline and mosaic mutations of FLN1 in men with periventricular heterotopia (2004) (130)
Cortical myoclonus in angelman syndrome (1996) (129)
Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation (2006) (129)
Genetic Basis of Brain Malformations (2016) (128)
EPILEPSY AND FOCAL GYRAL ANOMALIES DETECTED BY MRI: ELECTROCLINICO‐MORPHOLOGICAL CORRELATIONS AND FOLLOW‐UP (1992) (126)
Epilepsy in Rett syndrome, and CDKL5‐ and FOXG1‐gene–related encephalopathies (2012) (126)
Epilepsy and malformations of the cerebral cortex. (1999) (123)
Severe myoclonic epilepsy in infancy: A systematic review and a meta‐analysis of individual patient data (2008) (120)
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution (2016) (119)
Mosaic mutations of the LIS1 gene cause subcortical band heterotopia (2003) (118)
7T MRI in focal epilepsy with unrevealing conventional field strength imaging (2016) (117)
Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. (2011) (117)
Vagus nerve stimulation: Surgical technique of implantation and revision and related morbidity (2017) (115)
Cognitive development in Dravet syndrome: A retrospective, multicenter study of 26 patients (2011) (115)
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. (2011) (115)
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion (2009) (113)
Idiopathic epilepsies with seizures precipitated by fever: clinical and genetic study of 132 patients (2005) (111)
Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia (2003) (110)
The landscape of epilepsy-related GATOR1 variants (2018) (110)
Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance (2013) (109)
Autism with Seizures and Intellectual Disability: Possible Causative Role of Gain-of-function of the Inwardly-Rectifying K+ Channel Kir4.1 (2011) (109)
Reorganisation of the somatosensory system after early brain damage (2007) (109)
Abnormal corticomuscular and intermuscular coupling in high-frequency rhythmic myoclonus. (2003) (108)
Protocadherin 19 mutations in girls with infantile-onset epilepsy (2010) (107)
Rapid assay of topiramate in dried blood spots by a new liquid chromatography-tandem mass spectrometric method. (2008) (107)
Epilepsy and genetic malformations of the cerebral cortex. (2001) (105)
Epilepsy, antiepileptic drugs, and malformations in children of women with epilepsy: a French prospective cohort study. (1992) (105)
Continuous Spike‐and‐Wave Activity During Slow‐Wave Sleep: Syndrome or EEG Pattern? (1999) (104)
Seizure outcome and use of antiepileptic drugs after epilepsy surgery according to histopathological diagnosis: a retrospective multicentre cohort study (2020) (104)
The role of the nicotinic acetylcholine receptors in sleep-related epilepsy. (2007) (101)
Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy (2016) (100)
The epileptic spectrum in the congenital bilateral perisylvian syndrome (1994) (99)
PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine (2012) (99)
Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain. (1997) (99)
Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females. (2002) (99)
The phenotype of SCN8A developmental and epileptic encephalopathy (2018) (95)
Epileptic Syndromes and Visually Induced Seizures (2004) (93)
Monogenic variants in dystonia: an exome-wide sequencing study (2020) (93)
Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects. (1998) (92)
Experimental designs for small randomised clinical trials: an algorithm for choice (2013) (92)
Dominant partial epilepsies. A clinical, electrophysiological and genetic study of 19 European families. (2000) (91)
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis (2008) (91)
Malformations of cortical development and epilepsy. (2015) (90)
Topiramate and its clinical applications in epilepsy (2006) (90)
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency. (2015) (89)
Lissencephaly: Expanded imaging and clinical classification (2017) (88)
Genetic and neuroradiological heterogeneity of double cortex syndrome (2000) (88)
GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy (2012) (87)
Ultra-High-Field MR Imaging in Polymicrogyria and Epilepsy (2015) (86)
Mosaic SCN1A Mutation in Familial Severe Myoclonic Epilepsy of Infancy (2006) (85)
The influence of dosage, age, and comedication on steady state plasma lamotrigine concentrations in epileptic children: a prospective study with preliminary assessment of correlations with clinical response. (1997) (85)
Benign childhood focal epilepsies (2012) (85)
Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing (2001) (85)
Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria (2014) (85)
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3 (2019) (84)
Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: A new X-linked mental retardation syndrome (1997) (84)
Topiramate concentrations in neonates treated with prolonged whole body hypothermia for hypoxic ischemic encephalopathy (2009) (83)
Genetic Malformations of the Cerebral Cortex and Epilepsy (2005) (83)
Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex (2002) (82)
Malformations of cortical development and epilepsy (2008) (82)
Bilateral frontal polymicrogyria (2000) (82)
Mutations in the HECT domain of NEDD4L lead to AKT/mTOR pathway deregulation and cause periventricular nodular heterotopia (2016) (81)
Intravenous immunoglobulin in neurological disease: a specialist review (2002) (81)
Phenobarbital for neonatal seizures in hypoxic ischemic encephalopathy: A pharmacokinetic study during whole body hypothermia (2011) (79)
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations (2011) (79)
Epileptic Encephalopathies with Myoclonic Seizures in Infants and Children (Severe Myoclonic Epilepsy and Myoclonic-Astatic Epilepsy) (2003) (79)
NEUROLOGICAL FINDINGS AND SEIZURE OUTCOME IN CHILDREN WITH BILATERAL OPERCULAR MACROGYRIC‐LIKE CHANGES DETECTED BY MRI (1992) (79)
Topical Review: Neuronal Migration Disorders, Genetics, and Epileptogenesis (2004) (78)
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly (2017) (78)
Co‐occurring malformations of cortical development and SCN1A gene mutations (2014) (78)
Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia. (1997) (78)
Efficacy and safety of ketamine in refractory status epilepticus in children (2012) (77)
Valproate as a Mainstay of Therapy for Pediatric Epilepsy (2006) (77)
Brain MRI Findings in Severe Myoclonic Epilepsy in Infancy and Genotype–Phenotype Correlations (2007) (77)
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly (2018) (77)
Pathogenetic mechanisms of focal cortical dysplasia (2014) (77)
Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function (2011) (76)
PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures (2012) (74)
Posterior quadrantic dysplasia or hemi-hemimegalencephaly (2004) (74)
Reversible Pseudoatrophy of the Brain and Mental Deterioration Associated with Valproate Treatment (1998) (74)
White matter abnormalities across different epilepsy syndromes in adults: an ENIGMA Epilepsy study (2019) (74)
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 (2019) (73)
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. (2013) (72)
The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures (2019) (71)
Reflex Seizures are Frequent in Patients with Down Syndrome and Epilepsy (1990) (70)
Focal seizures with affective symptoms are a major feature of PCDH19 gene–related epilepsy (2012) (69)
Pitfalls in genetic testing: the story of missed SCN1A mutations (2016) (69)
Physiology of Human Photosensitivity (2004) (69)
Myoclonic status epilepticus following high-dosage lamotrigine therapy (1999) (69)
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients (2016) (69)
Phenotypic spectrum of GABRA1 (2016) (69)
New strategy for the screening of lysosomal storage disorders: the use of the online trapping-and-cleanup liquid chromatography/mass spectrometry. (2009) (68)
Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy (2010) (68)
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond (2018) (67)
Dravet syndrome: Treatment options and management of prolonged seizures (2019) (67)
A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy (2000) (67)
Periventricular nodular heterotopia with overlying polymicrogyria. (2005) (67)
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome (2015) (67)
Severe myoclonic epilepsy in infancy (Dravet syndrome) 30 years later (2011) (66)
Topical Review: Neuronal Migration Disorders, Genetics, and Epileptogenesis (2004) (66)
Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation (1998) (65)
Epileptic negative myoclonus (1993) (65)
SYNGAP1 encephalopathy (2018) (64)
Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations (2017) (64)
Generalized Epilepsy with Febrile Seizures Plus (GEFS+): Clinical Spectrum in Seven Italian Families Unrelated to SCN1A, SCN1B, and GABRG2 Gene Mutations (2004) (64)
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. (2019) (64)
Characterization of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next generation sequencing study (2015) (63)
Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism–epilepsy phenotype (2014) (62)
Early‐onset Absence Epilepsy and Paroxysmal Dyskinesia (2002) (62)
Neurologic phenotypes associated with COL4A1/2 mutations (2018) (61)
Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations (2012) (61)
Oral topiramate in neonates with hypoxic ischemic encephalopathy treated with hypothermia: a safety study. (2010) (60)
Network-based atrophy modeling in the common epilepsies: A worldwide ENIGMA study (2020) (60)
Antiepileptic Drug Treatment in Children with Epilepsy (2015) (60)
Mutations in GABRB3 (2017) (59)
Reciprocal translocations: a trap for cytogenetists? (2005) (59)
Electrophysiological characterization of spontaneous and carbamazepine-induced epileptic negative myoclonus in benign childhood epilepsy with centro-temporal spikes (2004) (58)
Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1‐q44 duplication including the AKT3 gene (2015) (58)
Bilateral perisylvian polymicrogyria in three generations (1999) (58)
Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening (2014) (58)
Tiagabine in Clinical Practice (2001) (57)
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy (2017) (57)
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome (2017) (56)
Cognitive epilepsy: ADHD related to focal EEG discharges. (2002) (56)
Effectiveness of antiepileptic therapy in patients with PCDH19 mutations (2016) (56)
Epilepsy and malformations of the cerebral cortex. (2003) (56)
Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion (2008) (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)
Nonsyndromic mental retardation and cryptogenic epilepsy in women with Doublecortin gene mutations (2003) (55)
Clinical, MRI, and pathological features of polymicrogyria in chromosome 22q11 deletion syndrome (2004) (54)
Effectiveness and tolerability of perampanel in children and adolescents with refractory epilepsies—An Italian observational multicenter study (2016) (54)
Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly (1999) (54)
Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency. (2013) (53)
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study (2018) (53)
Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2. (2013) (53)
Malformations of cortical development and aberrant cortical networks: epileptogenesis and functional organization. (2010) (53)
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy (2018) (53)
Cortical reflex myoclonus in rett syndrome (1998) (53)
Bilateral frontoparietal polymicrogyria, Lennox‐Gastaut syndrome, and GPR56 gene mutations (2009) (53)
Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams–Beuren locus (2007) (52)
Linkage and mutational analysis of CLCN2 in childhood absence epilepsy (2007) (52)
GNAO1 encephalopathy (2017) (51)
A new rapid micromethod for the assay of phenobarbital from dried blood spots by LC‐tandem mass spectrometry (2009) (51)
Abnormal Phonologic Processing in Familial Lateral Temporal Lobe Epilepsy Due to a New LGI1 Mutation (2005) (51)
Functional studies of new GLA gene mutations leading to conformational Fabry disease. (2010) (51)
Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene (2010) (51)
Ketamine in refractory convulsive status epilepticus in children avoids endotracheal intubation (2015) (50)
Diagnostic implications of genetic copy number variation in epilepsy plus (2019) (49)
Trisomy 12p Syndrome: A Chromosomal Disorder Associated with Generalized 3‐Hz Spike and Wave Discharges (1990) (49)
Epilepsy and movement disorders (2001) (49)
Mutational Analysis of EFHC1 Gene in Italian Families with Juvenile Myoclonic Epilepsy (2007) (49)
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. (2018) (49)
Idiopathic Epilepsy and Paroxysmal Dyskinesia (2001) (49)
A New Benign Adult Familial Myoclonic Epilepsy (BAFME) Pedigree Suggesting Linkage to Chromosome 2p11.1‐q12.2 (2004) (48)
Galactosialidosis: review and analysis of CTSA gene mutations (2013) (48)
Safety and Tolerability of Antiepileptic Drug Treatment in Children with Epilepsy (2012) (48)
Genetic Epilepsy Syndromes Without Structural Brain Abnormalities: Clinical Features and Experimental Models (2014) (48)
Myoclonic Absence‐Like Seizures and Chromosome Abnormality Syndromes (1998) (48)
The spectrum of intermediate SCN8A‐related epilepsy (2019) (47)
Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia (2004) (46)
Dravet syndrome: the main issues. (2012) (46)
Early Clinical and EEG Features of Infantile Spasms in Down Syndrome (1996) (46)
A prospective study of direct medical costs in a large cohort of consecutively enrolled patients with refractory epilepsy in Italy (2015) (46)
Experience with topiramate monotherapy in elderly patients with recent‐onset epilepsy (2005) (45)
The Costs of Childhood Epilepsy in Italy: Comparative Findings from Three Health Care Settings (2001) (45)
High frequency of genomic deletions—and a duplication—in the LIS1 gene in lissencephaly: implications for molecular diagnosis (2008) (45)
Influence of Dosage, Age, and Co-medication on Plasma Topiramate Concentrations in Children and Adults with Severe Epilepsy and Preliminary Observations on Correlations with Clinical Response (2003) (45)
Induction of partial seizures by visual stimulation. Clinical and electroencephalographic features and evoked potential studies. (1998) (44)
Retrospective evaluation of low long-term efficacy of antiepileptic drugs and ketogenic diet in 39 patients with CDKL5-related epilepsy. (2016) (44)
Safety and efficacy of topiramate in neonates with hypoxic ischemic encephalopathy treated with hypothermia (NeoNATI): a feasibility study (2018) (44)
Occipitotemporal seizures with ictus emeticus induced by intermittent photic stimulation (1994) (44)
Ketamine for Refractory Status Epilepticus: A Systematic Review (2018) (44)
Chromosomal disorders associated with epilepsy. (2005) (44)
Neuroimaging and neuropathology of Dravet syndrome (2011) (44)
Epilepsy surgery in Neurofibromatosis Type 1 (2012) (44)
Clinical spectrum of STX1B-related epileptic disorders (2019) (43)
Genomic DNA methylation distinguishes subtypes of human focal cortical dysplasia (2019) (43)
Topiramate monotherapy as broad-spectrum antiepileptic drug in a naturalistic clinical setting (2005) (42)
Mutations in TUBG 1 , DYNC 1 H 1 , KIF 5 C and KIF 2 A cause malformations of cortical development and microcephaly (2018) (42)
No major role for the EMX2 gene in schizencephaly (2008) (42)
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish (2019) (41)
Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy (2013) (41)
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia (2018) (41)
The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients (2017) (41)
Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots. (2014) (40)
Comparative efficacy of antiepileptic drugs in children and adolescents: A network meta‐analysis (2018) (40)
Rapid assay of rufinamide in dried blood spots by a new liquid chromatography-tandem mass spectrometric method. (2011) (40)
Periventricular heterotopia in fragile X syndrome (2006) (40)
Efficacy of ketamine in refractory convulsive status epilepticus in children: a protocol for a sequential design, multicentre, randomised, controlled, open-label, non-profit trial (KETASER01) (2016) (39)
Mutations in ARFGEF 2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex (39)
Cortical dysplasias, genetics, and epileptogenesis. (1999) (39)
Angelman Syndrome (2003) (39)
Adolescent Onset of Idiopathic Photosensitive Occipital Epilepsy After Remission of Benign Rolandic Epilepsy (1997) (39)
The ketogenic diet for Dravet syndrome and other epileptic encephalopathies: An Italian consensus (2011) (38)
Hemiconvulsion–hemiplegia–epilepsy syndrome: Early magnetic resonance imaging findings and neuroradiological follow-up (2007) (38)
Evaluation of carisbamate, a novel antiepileptic drug, in photosensitive patients: An exploratory, placebo-controlled study (2007) (38)
Therapeutic drug monitoring of carbamazepine and its metabolite in children from dried blood spots using liquid chromatography and tandem mass spectrometry. (2015) (38)
Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations (2017) (38)
TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model. (2019) (38)
Surgical Resection for Intractable Epilepsy in “Double Cortex” Syndrome Yields Inadequate Results (2001) (37)
Developments in neuroacanthocytosis: Expanding the spectrum of choreatic syndromes (2006) (37)
CDKL5 gene‐related epileptic encephalopathy: electroclinical findings in the first year of life (2011) (37)
A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration. (2018) (37)
Physiology of epilepsia partialis continua and subcortical mechanisms of status epilepticus (2009) (36)
Trends in pediatric epilepsy surgery in Europe between 2008 and 2015: Country‐, center‐, and age‐specific variation (2019) (36)
Linkage and association analysis of CACNG3 in childhood absence epilepsy (2007) (36)
The α2B‐adrenergic receptor is mutant in cortical myoclonus and epilepsy (2014) (36)
Genome‐wide linkage meta‐analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies (2012) (36)
Epilepsy surgery of “low grade epilepsy associated neuroepithelial tumors”: A retrospective nationwide Italian study (2017) (36)
Characteristics of a large population of patients with refractory epilepsy attending tertiary referral centers in Italy (2010) (35)
Lennox‐Gastaut syndrome with late‐onset and prominent reflex seizures in trisomy 21 patients (2009) (35)
Piracetam in the treatment of cortical myoclonus. (1999) (35)
SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency (2018) (35)
Epileptic negative myoclonus. (1993) (35)
Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies (2019) (35)
Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients (2009) (35)
The potential action of galactose as a "chemical chaperone": increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient. (2009) (34)
Surgical resection for intractable epilepsy in "double cortex" syndrome yields inadequate results. (2001) (34)
New clinical and molecular insights on Barth syndrome (2013) (34)
Borderline Dravet syndrome: A useful diagnostic category? (2011) (34)
Delayed appearance of interictal EEG abnormalities in early onset childhood epilepsy with occipital paroxysms (1997) (34)
Proposal of an Algorithm for Diagnosis and Treatment of Neonatal Seizures in Developing Countries (2007) (34)
Continuous focal spikes during REM sleep in a case of acquired aphasia (Landau-Kleffner syndrome). (1992) (34)
Adjunctive zonisamide therapy in the long‐term treatment of children with partial epilepsy: Results of an open‐label extension study of a phase III, randomized, double‐blind, placebo‐controlled trial (2014) (34)
CHLAMYDIA INFECTION (2001) (34)
Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy. (2019) (33)
Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency. (2009) (33)
Panic Attacks Mistaken for Relapse of Epilepsy (1995) (33)
The causes of epilepsy : common and uncommon causes in adults and children (2011) (33)
Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25. (1998) (33)
Familial Epilepsy with Unilateral and Bilateral Malformations of Cortical Development (1999) (33)
Overview of presurgical assessment and surgical treatment of epilepsy from the Italian League Against Epilepsy (2013) (33)
Safety and efficacy of topiramate in neonates with hypoxic ischemic encephalopathy treated with hypothermia (NeoNATI) (2012) (33)
The ENIGMA‐Epilepsy working group: Mapping disease from large data sets (2020) (32)
Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease (2008) (32)
International consensus recommendations on the diagnostic work-up for malformations of cortical development (2020) (32)
Infantile Spasms: An Early Epileptic Manifestation in Some Patients With the Congenital Bilateral Perisylvian Syndrome (1994) (32)
Epileptic seizures induced by syncopal attacks (1989) (32)
The medical and surgical treatment of tumoral seizures: Current and future perspectives (2013) (32)
Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature. (2003) (32)
Neuroprotective effects of topiramate and memantine in combination with hypothermia in hypoxic-ischemic brain injury in vitro and in vivo (2018) (32)
Genetic Predisposition to Severe Myoclonic Epilepsy in Infancy (2001) (32)
Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function (2015) (32)
Dravet syndrome and SCN1A gene mutation related‐epilepsies: cognitive impairment and its determinants (2011) (32)
The hyperkinetic movement disorder of FOXG1‐related epileptic–dyskinetic encephalopathy (2016) (31)
Seizures in Klinefelter's syndrome. (1998) (30)
Intrinsic epileptogenicity of gangliogliomas may be independent from co-occurring focal cortical dysplasia (2011) (30)
Defining the electroclinical phenotype and outcome of PCDH19‐related epilepsy: A multicenter study (2018) (30)
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations (2017) (30)
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects. (2020) (30)
Antimyoclonic effects of alcohol in progressive myoclonus epilepsy (1990) (30)
Plasma Gabapentin Concentrations in Children With Epilepsy: Influence of Age, Relationship With Dosage, and Preliminary Observations on Correlation With Clinical Response (2003) (30)
Genetic heterogeneity in infantile spasms (2019) (30)
Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14 (2009) (29)
Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy (2016) (29)
Symptoms of anxiety and depression and family's quality of life in children and adolescents with epilepsy (2018) (29)
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene (2012) (29)
Neuropsychological Findings in Idiopathic Occipital Lobe Epilepsies (2006) (29)
A rapid liquid chromatography tandem mass spectrometry-based method for measuring propranolol on dried blood spots. (2013) (29)
Perception of impact of Dravet syndrome on children and caregivers in multiple countries: looking beyond seizures (2019) (28)
Myoclonus and Epilepsy in Childhood (1997) (28)
Are there generalised spike waves and typical absences in benign rolandic epilepsy? (1999) (28)
The application of artificial intelligence to understand the pathophysiological basis of psychogenic nonepileptic seizures (2018) (28)
Mild Generalized Epilepsy and Developmental Disorder Associated with Large Inv Dup(15) (2002) (28)
Atypical face shape and genomic structural variants in epilepsy (2012) (28)
Bilateral Posterior Periventricular Nodular Heterotopia: A Recognizable Cortical Malformation with a Spectrum of Associated Brain Abnormalities (2013) (28)
The inclusion of ADA-SCID in expanded newborn screening by tandem mass spectrometry. (2014) (28)
SYNGAP1 encephalopathy A distinctive generalized developmental and epileptic encephalopathy (28)
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature (2020) (27)
Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis (2012) (27)
SCN3A‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation (2020) (27)
Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion (2012) (27)
Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio—A Syndrome‐Associated Mutations (2015) (27)
Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort. (2012) (27)
PIK 3 CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution (2018) (27)
Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation. (2017) (27)
The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commission (2022) (27)
Epilepsy in ring chromosome 20 syndrome (2016) (27)
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders (2020) (26)
No Evidence of a Major Locus for Benign Familial Infantile Convulsions on Chromosome 19q12‐q13.1 (1999) (26)
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders (2020) (26)
Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment (2014) (26)
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study (2018) (26)
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly (2013) (26)
Early Visual Seizures and Progressive Myoclonus Epilepsy in Neuronopathic Gaucher Disease Due to a Rare Compound Heterozygosity (N188S/S107L) (2004) (26)
Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias. (2015) (26)
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications (2021) (26)
Off-Label Prescribing of Antiepileptic Drugs in Pharmacoresistant Epilepsy: A Cross-Sectional Drug Utilization Study of Tertiary Care Centers in Italy (2014) (25)
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders (2017) (25)
Diffuse malformations of cortical development. (2013) (25)
Efficacy and safety of Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: A real‐world study (2020) (25)
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders (2017) (25)
Impaired surface αβγ GABAA receptor expression in familial epilepsy due to a GABRG2 frameshift mutation (2013) (25)
Neurologic phenotypes associated with COL4A1 / 2 mutations Expanding the spectrum of disease (24)
Increasing volume and complexity of pediatric epilepsy surgery with stable seizure outcome between 2008 and 2014: A nationwide multicenter study (2017) (24)
Early clinical features in Dravet syndrome patients with and without SCN1A mutations (2012) (24)
Subcortical heterotopic gray matter brain malformations (2019) (24)
De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants (2018) (24)
Paroxysmal disorders associated with PRRT2 mutations shake up expectations on ion channel genes (2012) (24)
PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy (2015) (24)
Treatment of myoclonic epilepsies of childhood, adolescence, and adulthood. (2005) (23)
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation (2008) (23)
7T Epilepsy Task Force Consensus Recommendations on the Use of 7T MRI in Clinical Practice (2020) (23)
Leigh-like neuroimaging features associated with new biallelic mutations in OPA1. (2017) (23)
Dried blood spot assay for the quantification of phenytoin using Liquid Chromatography-Mass Spectrometry. (2015) (23)
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)
Optimizing the molecular diagnosis of CDKL5 gene–related epileptic encephalopathy in boys (2014) (23)
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals. (2021) (23)
GNAO1 encephalopathy Broadening the phenotype and evaluating treatment and outcome (23)
Classification concepts and terminology: Is clinical description assertive and laboratory testing objective? (2010) (22)
Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation (2016) (22)
FLNA genomic rearrangements cause periventricular nodular heterotopia (2012) (22)
Myoclonus and epilepsy. (2013) (22)
Functional characterization of a novel C-terminal ATP1A2 mutation causing hemiplegic migraine and epilepsy (2013) (22)
Somatic Overgrowth Predisposes to Seizures in Autism Spectrum Disorders (2013) (22)
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria. (2021) (22)
Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations (2020) (22)
Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures (2020) (22)
Sequential occurrence of benign partial epilepsy and childhood absence epilepsy in three patients (1996) (22)
Paroxysmal tonic upgaze of childhood with ataxia: a benign transient dystonia with autosomal dominant inheritance (1998) (21)
Different Neurophysiologic Patterns of Myoclonus Characterize Lennox–Gastaut Syndrome and Myoclonic Astatic Epilepsy (2002) (21)
Outcome after hemispherotomy in patients with intractable epilepsy: Comparison of techniques in the Italian experience (2019) (21)
Deep Convolutional Networks for Automated Detection of Epileptogenic Brain Malformations (2018) (21)
Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1 (2018) (21)
How can advances in epilepsy genetics lead to better treatments and cures? (2014) (21)
Lessons learned from 40 novel PIGA patients and a review of the literature (2020) (21)
Temporal lobe epilepsy surgery in children and adults: A multicenter study (2020) (20)
Exacerbation of epileptic negative myoclonus by carbamazepine or phenobarbital in children with atypical benign rolandic epilepsy (1995) (20)
Autosomal Dominant Early‐onset Cortical Myoclonus, Photic‐induced Myoclonus, and Epilepsy in a Large Pedigree (2006) (20)
Focal cortical dysplasia type IIb in the rolandic cortex: Functional reorganization after early surgery documented by passive task functional MRI (2012) (20)
Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review (2018) (20)
Cognitive outcome after epilepsy surgery in children: A controlled longitudinal study (2017) (20)
Genetics of epilepsy: epilepsy research foundation workshop report. (2007) (20)
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2 (2016) (20)
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)
Pathophysiology of myoclonic epilepsies. (2005) (19)
Unilobar surgery for symptomatic epileptic spasms (2016) (19)
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns (2020) (19)
Characterization of severe action myoclonus in sialidoses (2011) (19)
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course. (2019) (19)
Clinical and genetic study of a family with a paternally inherited 15q11–q13 duplication (2013) (19)
Ultra-High-Field Targeted Imaging of Focal Cortical Dysplasia: The Intracortical Black Line Sign in Type IIb (2019) (19)
Multiplex ligation-dependent probe amplification detects DCX gene deletions in band heterotopia (2007) (19)
Detection of doxorubicin hydrochloride accumulation in the rat brain after morphine treatment by mass spectrometry (2011) (19)
Red Flags for early referral of people with symptoms suggestive of narcolepsy: a report from a national multidisciplinary panel (2018) (19)
Multicenter Validation of a Deep Learning Detection Algorithm for Focal Cortical Dysplasia (2021) (19)
Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial (2022) (19)
When silence is noise: infantile‐onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription (2016) (18)
Double-blind placebo-controlled trial of flunarizine as add-on therapy in refractory childhood epilepsy (1991) (18)
Erratum: Idiopathic photosensitive occipital lobe epilepsy (Epilepsia (1995) 36 (883-891)) (1996) (18)
The genetic and molecular basis of epilepsy. (2003) (17)
Thermal inactivation of SARS COVID-2 virus: Are steam inhalations a potential treatment? (2020) (17)
Emerging Role of the Autophagy/Lysosomal Degradative Pathway in Neurodevelopmental Disorders With Epilepsy (2020) (17)
A novel inherited SCN1A mutation associated with different neuropsychological phenotypes: Is there a common core deficit? (2015) (17)
Morquio A syndrome due to maternal uniparental isodisomy of the telomeric end of chromosome 16. (2012) (17)
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature (2020) (17)
Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes (2003) (17)
Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects (2017) (17)
Artificial intelligence for classification of temporal lobe epilepsy with ROI-level MRI data: A worldwide ENIGMA-Epilepsy study (2021) (17)
Idiopathic partial epilepsy: electroclinical demonstration of a prolonged seizure with sequential rolandic and occipital involvement. Seizure spread due to regional susceptibility? (1999) (17)
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity (2019) (16)
Strategies for reducing the incidence of skin complications in newborns treated with whole-body hypothermia (2012) (16)
Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9 (2018) (16)
Compulsive Somatosensory Self‐Stimulation Inducing Epileptic Seizures (1992) (16)
Classification conundrums in paroxysmal dyskinesias: A new subtype or variations on classic themes? (2005) (16)
Automatic detection and sonification of nonmotor generalized onset epileptic seizures: Preliminary results (2019) (16)
Familial periventricular nodular heterotopia, epilepsy and Melnick–Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects (2015) (16)
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies (2021) (16)
Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview. (2019) (16)
22q11.2 Microduplication syndrome and epilepsy with continuous spikes and waves during sleep (CSWS). A case report and review of the literature (2012) (16)
Bilateral Cavitations of Ganglionic Eminence: A Fetal MR Imaging Sign of Halted Brain Development (2013) (15)
SAR prediction in adults and children by combining measured B1+ maps and simulations at 7.0 Tesla (2016) (15)
Nonconvulsive Status Epilepticus Precipitated by Carbamazepine Presenting as Dissociative and Affective Disorders in Adolescents (2005) (15)
Multimodal fiber‐probe spectroscopy allows detecting epileptogenic focal cortical dysplasia in children (2017) (15)
Next-generation sequencing approach to hyperCKemia (2019) (15)
Neuroimaging in mitochondrial disorders. (2018) (15)
Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX (2011) (15)
Segmental facial myoclonus in Moebius syndrome (1999) (15)
Add-On Lamotrigine Treatment in Children and Young Adults With Severe Partial Epilepsy: An Open, Prospective, Long-Term Study (2000) (15)
Advancing research toward faster diagnosis, better treatment, and end of stigma in epilepsy (2019) (14)
Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder? (2020) (14)
Hypothermia for neonatal hypoxic-ischemic encephalopathy: may an early amplitude-integrated EEG improve the selection of candidates for cooling? (2012) (14)
The successful inclusion of succinylacetone as a marker of tyrosinemia type I in Tuscany newborn screening program. (2009) (14)
Atlas of lesion locations and postsurgical seizure freedom in focal cortical dysplasia: A MELD study (2021) (14)
Aminoacylase I deficiency due to ACY1 mRNA exon skipping (2014) (14)
Tissue Border Enhancement by inversion recovery MRI at 7.0 Tesla (2014) (14)
Recurrent drop attacks in early childhood as presenting symptom of benign hereditary chorea caused by TITF1 gene mutations (2015) (14)
Results From an Italian Expanded Access Program on Cannabidiol Treatment in Highly Refractory Dravet Syndrome and Lennox–Gastaut Syndrome (2021) (14)
Prospective study of first-line vigabatrin monotherapy in childhood partial epilepsies (1999) (13)
SARS-CoV-2 infection in a patient with propionic acidemia (2020) (13)
Health Technology Assessment report on the presurgical evaluation and surgical treatment of drug‐resistant epilepsy (2013) (13)
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy (2020) (13)
implications for molecular diagnosis gene in lissencephaly: LIS1 duplicationin the High frequency of genomic deletionsand a (2008) (13)
Rationale for treating epilepsy in children. (2002) (13)
Acute symptomatic seizures—Should we retain the term? (2010) (13)
Periventricular heterotopia in 6 q terminal deletion syndrome : role of the C 6 orf 70 gene (2013) (13)
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease (2018) (13)
A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy (2010) (13)
The epileptic encephalopathies. (2013) (13)
Clinical and molecular delineation of PUS3‐associated neurodevelopmental disorders (2021) (13)
Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations. (2019) (13)
Treatment of myoclonic epilepsies in infancy and early childhood. (2005) (13)
Early Diagnosis and Monitoring of Neurodegenerative Langerhans Cell Histiocytosis (2015) (13)
Outcome of idiopathic childhood epilepsy with occipital paroxysms (1993) (12)
Age-related epileptic encephalopathies. (2012) (12)
Long‐term efficacy of add‐on lacosamide treatment in children and adolescents with refractory epilepsies: A single‐center observational study (2018) (12)
Climate change and epilepsy: Insights from clinical and basic science studies (2021) (12)
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome (2020) (12)
Effects of formalin fixation on tissue optical properties of in-vitro brain samples (2015) (12)
Facial hemangioma and cerebral corticovascular dysplasia (2003) (12)
Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential. (2011) (12)
Effect of alcohol on action myoclonus in Lance‐Adams syndrome and progressive myoclonus epilepsy (1992) (12)
Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO) (2017) (12)
In‐frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males (2011) (12)
Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ. (2018) (12)
A systems-level analysis highlights microglial activation as a modifying factor in common forms of human epilepsy (2018) (12)
The syndrome of polymicrogyria, thalamic hypoplasia, and epilepsy with CSWS (2016) (12)
Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance. (2012) (11)
Periventricular nodular heterotopia in Smith‐Magenis syndrome (2014) (11)
Mycophenolate mofetil as induction and long-term maintaining treatment in childhood: Primary angiitis of the central nervous system. (2017) (11)
Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry disease. (2016) (11)
Spatial centrosome proteome of human neural cells uncovers disease-relevant heterogeneity (2022) (11)
Polymicrogyria and epilepsy (2010) (11)
Monogenic Epilepsies (2021) (11)
Large-scale, cell-resolution volumetric mapping allows layer-specific investigation of human brain cytoarchitecture. (2021) (11)
Dysgraphia as a Mild Expression of Dystonia in Children with Absence Epilepsy (2015) (11)
Pallister-Killian syndrome: an unusual cause of epileptic spasms. (2005) (11)
Clinical and polygraphic study of familial paroxysmal kinesigenic dyskinesia with PRRT2 mutation (2013) (11)
Diverse genetic causes of polymicrogyria with epilepsy (2021) (11)
Distinct epilepsy phenotypes and response to drugs in KCNA1 gain‐ and loss‐of function variants (2021) (10)
Deciphering the premature mortality in PIGA-CDG – An untold story (2020) (10)
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome (2021) (10)
Epilepsy in lupus (2008) (10)
The Congenital Bilateral Peri-Sylvian Syndrome (1994) (10)
Practitioner review: use of antiepileptic drugs in children. (2006) (10)
Neurosurgical treatment of subependymal giant cell astrocytomas in tuberous sclerosis complex: a series of 44 surgical procedures in 31 patients (2019) (10)
A Pharmacokinetic Study and Correlation with Clinical Response of Rufinamide in Infants with Epileptic Encephalopathies (2013) (10)
Extracellular LGALS3BP regulates neural progenitor position and relates to human cortical complexity (2021) (10)
Lupus, antiphospholipid syndrome and epilepsy: an update (2017) (10)
A systems‐level analysis highlights microglial activation as a modifying factor in common epilepsies (2021) (10)
Familial Lennox‐Gastaut syndrome in male siblings with a novel DCX mutation and anterior pachygyria (2010) (10)
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy (2019) (10)
Efficacy and Safety of Fenfluramine for the Treatment of Seizures Associated With Lennox-Gastaut Syndrome (2022) (10)
Nodular heterotopia is built upon layers (2009) (9)
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies (2021) (9)
Early add-on immunoglobulin administration in Rasmussen encephalitis: the hypothesis of neuroimmunomodulation. (2011) (9)
Structural network alterations in focal and generalized epilepsy assessed in a worldwide ENIGMA study follow axes of epilepsy risk gene expression (2022) (9)
Autosomal recessive polymicrogyria with infantile spasms and limb deformities. (2001) (9)
Long‐term efficacy of add‐on stiripentol treatment in children, adolescents, and young adults with refractory epilepsies: A single center prospective observational study (2019) (9)
Drug Development for Rare Paediatric Epilepsies: Current State and Future Directions (2019) (9)
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood (2022) (9)
Do mutations in SCN1B cause Dravet syndrome? (2013) (9)
No evidence of ATP1A2 involvement in 12 multiplex Italian families with benign familial infantile seizures (2005) (9)
Medium-Chain Acyl-CoA Deficiency: Outlines from Newborn Screening, In Silico Predictions, and Molecular Studies (2013) (9)
Different genotypes in a large Italian family with recurrent hereditary fructose intolerance (2008) (9)
Late-Onset Epileptic Spasms (2015) (9)
Epilepsy and paroxysmal dyskinesia: co-occurrence and differential diagnosis. (2002) (9)
Brainstem Auditory Evoked Potentials in Alternating Hemiplegia: Ictal vs Interictal Assessment in One Case (1990) (8)
Interpretable surface-based detection of focal cortical dysplasias: a Multi-centre Epilepsy Lesion Detection study (2022) (8)
Seizure outcome after epilepsy surgery in tuberous sclerosis complex: Results and analysis of predictors from a multicenter study (2021) (8)
Vertical extraventricular functional hemispherotomy: a new variant for hemispheric disconnection. Technical notes and results in three patients (2015) (8)
Clinical and genetic factors predicting Dravet syndrome in infants with SCN 1 A mutations (8)
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review (2021) (8)
GALNS gene expression profiling in Morquio A patients' fibroblasts. (2008) (8)
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases (2022) (8)
Expanding the genetic and phenotypic spectrum of CHD2‐related disease: From early neurodevelopmental disorders to adult‐onset epilepsy (2021) (8)
Absence status triggered by pallid syncopal spells (1991) (8)
Double-target Antisense U1snRNAs Correct Mis-splicing Due to c.639+861C>T and c.639+919G>A GLA Deep Intronic Mutations (2016) (8)
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus. (2021) (8)
Impaired object identification in idiopathic childhood occipital epilepsy (2012) (8)
Linkage and association analysis of CACNG 3 in childhood absence epilepsy (2008) (8)
Symptomatic and presumed symptomatic focal epilepsies in childhood: An observational, prospective multicentre study (2016) (8)
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content (2019) (8)
Mutations in the exocyst component EXOC2 cause severe defects in human brain development (2020) (8)
What differentiates Landau-Kleffner syndrome from the syndrome of continuous spikes and waves during slow sleep? (1993) (7)
Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12 (2022) (7)
Expression of glutamine synthetase in balloon cells: a basis of their antiepileptic role? (2015) (7)
Focal cortical dysplasia: an update on diagnosis and treatment (2021) (7)
Orange-colored diapers as first sign of Lesch-Nyhan disease in an asymptomatic infant (2010) (7)
Fast Progression of Cerebellar Atrophy in PLA2G6-Associated Infantile Neuronal Axonal Dystrophy (2017) (7)
The spectrum of brain malformations and disruptions in twins (2020) (7)
Epilepsy and Movement Disorders: Opercular epilepsies with oromotor dysfunction (2001) (7)
Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies (2022) (7)
Subcortical band heterotopia with simplified gyral pattern and syndactyly (2003) (7)
Genetic Predisposition to Severe Myoclonic Epilepsy in Infancy (2001) (7)
History and classification of "myoclonic" epilepsies: from seizures to syndromes to diseases. (2005) (7)
The Causes of Epilepsy: Introduction to the concept of provoked epilepsy (2011) (7)
[The evolution of epilepsy in the most common genetic forms with mental retardation (Down's syndrome and the fragile X syndrome)]. (1993) (7)
Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum. (2022) (7)
An examination of the efficacy and safety of fenfluramine in adults, children, and adolescents with Dravet syndrome in a real‐world practice setting: A report from the Fenfluramine European Early Access Program (2022) (6)
What is the role of next generation sequencing in status epilepticus? (2019) (6)
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. (2019) (6)
Locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16 (2000) (6)
Angiocentric glioma-associated seizures: The possible role of EATT2, pyruvate carboxylase and glutamine synthetase (2021) (6)
SCN1A mutations in focal epilepsy with auditory features: widening the spectrum of GEFS plus. (2019) (6)
Linkage and association analysis of CACNG3 in childhood absence epilepsy (2008) (6)
Left inferior frontal cortex can compensate the inhibitory functions of right inferior frontal cortex and pre-supplementary motor area. (2018) (6)
Epilepsy and Movement Disorders: Syndromes with epilepsy and paroxysmal dyskinesia (2001) (6)
Autosomal dominant cortical myoclonus and epilepsy (ADCME) with linkage to chromosome 2p11.1-q12.2. (2005) (6)
Multicenter prospective longitudinal study in 34 patients with Dravet syndrome: Neuropsychological development in the first six years of life (2021) (6)
Prospective Evaluation of Ghrelin and Des-Acyl Ghrelin Plasma Levels in Children with Newly Diagnosed Epilepsy: Evidence for Reduced Ghrelin-to-Des-Acyl Ghrelin Ratio in Generalized Epilepsies (2022) (6)
Correction: The landscape of epilepsy-related GATOR1 variants (2018) (6)
An integrated fMRI, SEPs and MEPs approach for assessing functional organization in the malformed sensorimotor cortex (2010) (6)
Lesional and non-lesional epilepsies: A blurring genetic boundary. (2019) (6)
De novo variants in neurodevelopmental disorders with epilepsy (2018) (6)
Focal Cortical Dysplasia IIIa in Hippocampal Sclerosis-Associated Epilepsy: Anatomo-Electro-Clinical Profile and Surgical Results From a Multicentric Retrospective Study. (2020) (6)
Pathogenic MAST3 variants in the STK domain are associated with epilepsy (2021) (5)
Bilateral Perysilvian Polymicrogyria With Cerebellar Dysplasia and Ectopic Neurohypophysis (2011) (5)
[Partial trisomy of the long arm of chromosome 6. A clinical case]. (1993) (5)
Drosophila functional screening of de novo variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases (2021) (5)
Generalized epilepsies. (2019) (5)
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy (2019) (5)
Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome (2015) (5)
Mitochondrial respiratory chain defects in skin fibroblasts from patients with Dravet syndrome (2015) (5)
Development and validation of a 2nd tier test for identification of purine nucleoside phosphorylase deficiency patients during expanded newborn screening by liquid chromatography-tandem mass spectrometry (2016) (5)
Cortical formation abnormalities on foetal MR imaging: a proposed classification system trialled on 356 cases from Italian and UK centres (2020) (5)
Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder (2021) (5)
Seizure types and syndromes: lumping or splitting (2001) (5)
Quantitative MRI-Based Analysis Identifies Developmental Limbic Abnormalities in PCDH19 Encephalopathy. (2020) (5)
Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly–Gly mutation causing loss of an Exonic Splicing Enhancer (2018) (5)
Screening of Lysosomal Storage Disorders: Application of the Online Trapping-and-Cleanup Liquid Chromatography/Mass Spectrometry Method for Mucopolysaccharidosis I (2013) (5)
Double-target Antisense U1snRNAs Correct Mis-splicing Due to c.639+861C>T and c.639+919G>A GLA Deep Intronic Mutations. (2016) (5)
Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care. (2022) (4)
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy (2015) (4)
Sydenham's chorea in a girl with juvenile idiopathic arthritis treated with anti‐TNFα therapy (2010) (4)
Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child. (2015) (4)
Shedding light on dark genes: enhanced targeted resequencing by optimizing the combination of enrichment technology and DNA fragment length (2020) (4)
GM3 synthase deficiency in non-Amish patients (2021) (4)
Chapter 8 - Cortical Myoclonus and Epilepsy: Overlap and Differences (2009) (4)
Unstable non-coding pentanucleotide repeats destabilize cortical excitability. (2018) (4)
Somatic Focal Copy Number Gains of Noncoding Regions of Receptor Tyrosine Kinase Genes in Treatment-Resistant Epilepsy. (2020) (4)
Epilepsy and Movement Disorders: Motor dysfunction resulting from epileptic activity involving the sensorimotor cortex (2001) (4)
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations (2021) (4)
Morquio B disease: From pathophysiology towards diagnosis. (2021) (4)
Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome (2020) (4)
No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy (2019) (4)
Can We Increase the Likelihood of Success for Future Association Studies in Epilepsy? (2006) (3)
Cerebral folate transporter deficiency syndrome in three siblings: Why genetic testing for developmental and epileptic encephalopathies should be performed early and include the FOLR1 gene (2021) (3)
Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction (2021) (3)
Topographic divergence of atypical cortical asymmetry and atrophy patterns in temporal lobe epilepsy (2021) (3)
Seizure Outcome of Temporal Lobe Epilepsy Surgery in Adults and Children: A Systematic Review and Meta-Analysis (2022) (3)
Age-Related Differences in Audiovisual Interactions of Semantically Different Stimuli (2017) (3)
Progressive hemispheric shrinking in hemimegalencephaly: a possible role for seizure‐related neuronal loss (2008) (3)
Consensus statements on the information to deliver after a febrile seizure (2021) (3)
Lissencephaly Type I and Periventricular Heterotopia (2009) (3)
Hemicerebellitis can drive handedness shift (2017) (3)
Semiological study of ictal affective behaviour in epilepsy and mental retardation limited to females (EFMR) (2012) (3)
Language Regression Associated With Autistic Regression and Electroencephalographic (EEG) Abnormalities (2014) (3)
Malformations of Cortical Development (2017) (3)
Do heterotopic neurons think (2004) (3)
Dravet syndrome (2016) (3)
The Causes of Epilepsy: West syndrome and Lennox–Gastaut syndrome (2011) (3)
Migrating Focal Seizures and Myoclonic Status in ARV1-Related Encephalopathy (2021) (3)
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants (2022) (3)
The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study (2021) (3)
Computer-based automatic identification of neurons in gigavoxel-sized 3D human brain images (2015) (3)
Posterior quadrantic dysplasia or hemi-hemime galencephaly: A surgical approach to a characteristic brain malformation (2003) (3)
Relationships Between Morphologic and Functional Patterns in the Polymicrogyric Cortex (2018) (3)
Orphan Drug Use in Patients With Rare Diseases: A Population-Based Cohort Study (2022) (3)
Resective surgery for epileptogenic dysembryoplastic neuroepithelial tumor in hemimegalencephaly (2005) (3)
Abstracts for the Human Genetics Society of Australasia Virtual Conference 24–25 November 2020 (2021) (3)
Corrigendum to “Increasing volume and complexity of pediatric epilepsy surgery with stable seizure outcome between 2008 and 2014: A nationwide multicenter study” [Epilepsy Behav. Oct 2017; 75C:151-157] (2018) (2)
A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of N-glycosylation (CDG) (2020) (2)
Contractions in the second polyA tract of ARX are rare, non‐pathogenic polymorphisms (2011) (2)
Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report (2021) (2)
Making Memories: The Development of Long-Term Visual Knowledge in Children with Visual Agnosia (2013) (2)
Classification, Clinical Symptoms, and Syndromes (2012) (2)
Efficacy and Safety of Long-Term Treatment with Stiripentol in Children and Adults with Drug-Resistant Epilepsies: A Retrospective Cohort Study of 196 Patients (2022) (2)
The Causes of Epilepsy: Introduction to the concept of genetic epilepsy (2011) (2)
A nonsense mutation of the ATRX gene causing mild, moderate and profound mental retardation in members of a single family. (1999) (2)
Topiramate in the Treatment of Epilepsy - A Review (2006) (2)
Shedding light on dark genes: enhanced targeted resequencing by optimizing the combination of enrichment technology and DNA fragment length (2019) (2)
Increased sensitivity of the alpha-2 neuronal nicotinic receptor causes familial epilepsy with nocturnal wandering and ictal fear RID A-8863-2008 (2006) (2)
Multimodal fiber-probe spectroscopy as a clinical tool for diagnosing and classifying biological tissues (2017) (2)
Education and self-assessment (2001) (2)
Rare and Complex Epilepsies from Childhood to Adulthood: Requirements for Separate Management or Scope for a Lifespan Holistic Approach? (2021) (2)
Testing HLA-B*15:02 (2016) (2)
Principles of Treatment of Epilepsy in Children and Adolescents (2012) (2)
Familial dominant epilepsy and mild pachygyria associated with a constitutional LIS1 mutation (2018) (2)
Phase 2, placebo-controlled clinical study of oral ganaxolone in PCDH19-clustering epilepsy (2023) (2)
Patterns and predictors of language representation and the influence of epilepsy surgery on language reorganization in children and young adults with focal lesional epilepsy (2020) (2)
Abnormalities of brain development (2004) (2)
Defective IGF-1 prohormone N-glycosylation and reduced IGF-1 receptor signaling activation in congenital disorders of glycosylation (2022) (2)
Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing. (2002) (2)
Cortical dysplasias of genetic origin (2009) (2)
A novel developmental encephalopathy with epilepsy and hyperkinetic movement disorders associated with a deletion of the sodium channel gene cluster on chromosome 2q24.3. (2019) (2)
Subcortical heterotopic gray matter brain malformations Classi ﬁ cation study of 107 individuals (2)
HHE SYNDROME: EARLY MRI FINDINGS (2007) (2)
Corrigendum to "Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation" [Mol. Genet. Metab. 122/1-2 (2017) 135-142]. (2018) (2)
Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis (2019) (2)
Perampanel, a Selective, Non-Competitive AMPA Receptor Antagonist, Prolongs Time to Seizure Recurrence in Patients with Epilepsy: Results of Pooled Phase III Clinical Trial Data (S56.005) (2012) (2)
Multimodal fiber probe spectroscopy for tissue diagnostics applications: a combined Raman-fluorescence approach (2014) (2)
Malformations of Cortical Development: Genetic Aspects (2012) (2)
Recovery of aEEG Patterns at 24 Hours of Hypothermia Predicts Good Neurodevelopmental Outcome (2016) (2)
Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development (2023) (2)
Fenfluramine treatment is associated with improvement in everyday executive function in preschool-aged children (<5 years) with Dravet syndrome: A critical period for early neurodevelopment (2022) (2)
Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development (2023) (2)
Heterozygous variants in KCNC2 cause a broad spectrum of epilepsy phenotypes associated with characteristic functional alterations (2021) (2)
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2. (2022) (2)
PP7.5 – 1768 Efficacy of long-term adjunctive zonisamide therapy in paediatric patients with partial epilepsy: results of an open-label extension study of a Phase III, randomised, double-blind, placebo-controlled trial (2013) (2)
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish (2022) (1)
Epilepsy and Movement Disorders: Drugs for epilepsy and movement disorders (2001) (1)
Isolated recurrent myelitis in a 7-year-old child with serum aquaporin-4 IgG antibodies (2016) (1)
Case Studies in Epilepsy: Common and Uncommon Presentations (2012) (1)
Early-onset bradykinetic rigid syndrome and reflex seizures in a child with PURA syndrome. (2021) (1)
Fenfluramine provides clinically meaningful reduction in frequency of drop seizures in patients with Lennox–Gastaut syndrome: Interim analysis of an open‐label extension study (2022) (1)
THE EEG OF EPILEPSY PHENOTYPES IN ANGELMAN SYNDROME CHROMOSOME 15Q11-13 DELETIONS, UNIPARENTAL DISOMY, METHYLATION IMPRINT ABNORMALITIES, AND UBE3A MUTATION (1998) (1)
Epilepsy phenotypes and genotype determinants (2014) (1)
Genetic testing to prevent adverse reactions to antiepileptic drugs (2017) (1)
Correction to: The landscape of epilepsy-related GATOR1 variants (2018) (1)
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals. (2021) (1)
Heptadecanoylcarnitine (C17) a novel candidate biomarker for propionic and methylmalonic acidemias during expanded newborn screening (2017) (1)
Epilepsies as channelopathies (2001) (1)
Changes in appearance of cortical formation abnormalities in the foetus detected on sequential in utero MR imaging (2020) (1)
Towards automated neuron tracing via global and local 3D image analysis (2016) (1)
Dominantly acting variants in ARF3 have disruptive consequences on Golgi integrity and cause microcephaly recapitulated in zebrafish (2021) (1)
Genetic Epilepsy Syndromes Without Structural Brain Abnormalities: Clinical Features and Experimental Models (2014) (1)
Meeting report: EpiXchange II brings together European epilepsy research projects to discuss latest advances (2021) (1)
A clinical study of 21 European families with dominant partial epilepsy (1999) (1)
Dravet syndrome and other sodium channel‐related encephalopathies (2019) (1)
Multi-centre Epilepsy Lesion Detection (MELD) Project: Predictors of lesion location and postsurgical seizure freedom in focal cortical dysplasia (2021) (1)
Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review (2021) (1)
Extremely sustained startle-induced clonus: Non epileptic motor attacks mimicking clonic seizures in children with encephalopathy (2012) (1)
MELD Project: Atlas of lesion locations and postsurgical seizure freedom in focal cortical dysplasia (2021) (1)
KCNQ2 encephalopathy manifesting with Rett-like features (2020) (1)
Visual Sensitivity and Epilepsy in the Modern Environment: Introduction (2004) (1)
Epilepsy of infancy with migrating focal seizures or rigidity and multifocal seizure syndrome, lethal neonatal? Different emphases on a severe phenotype (2019) (1)
A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsies (2020) (1)
Hypothalamic hamartomas and hedgehogs (2008) (1)
Event‐based modeling in temporal lobe epilepsy demonstrates progressive atrophy from cross‐sectional data (2022) (1)
Polymicrogyria and Schizencephaly (2019) (1)
Bimodal Spectroscopy of Formalin Fixed Samples to Discriminate Dysplastic and Tumor Brain Tissues (2014) (1)
The Use of Stereophotogrammetry to Detect Copy Number Variation in People With Epilepsy (2011) (1)
A combined pipeline for quantitative analysis of human brain cytoarchitecture (2020) (1)
Idiopathic generalized epilepsies (2011) (1)
Fiber-probe optical spectroscopy discriminates normal brain from focal cortical dysplasia in pediatric subjects (2017) (1)
Analysis of common PI3K-AKT-MTOR mutations in pediatric surgical epilepsy by droplet digital PCR reveals novel clinical and molecular insights (2021) (1)
Overview of Disorders of Brain Development (2012) (1)
A combined Raman-fluorescence spectroscopic probe for tissue diagnostics applications (2013) (1)
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance. (2022) (1)
Unpleasant auditory illusions and related avoidance behaviour in a child. (2008) (1)
Results from the CATZ Study: A Phase III, Double-Blind, Randomized, Placebo-Controlled Trial To Assess the Efficacy and Safety of Adjunctive Zonisamide in Pediatric Patients with Partial-Onset Seizures (P06.100) (2012) (1)
NEGATIVE MYOCLONUS. REPLY (1994) (1)
Editorial Board (2007) (0)
Editorial Board (2008) (0)
Cerebral malformations (2020) (0)
Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome. (2022) (0)
Editorial Board (2007) (0)
Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction (2021) (0)
Case Studies in Epilepsy: Preface (2012) (0)
Retrospective evaluation of antiepileptic drugs in patients with CDKL5 mutations (2013) (0)
Multidimensional Tissue Fingerprint (2014) (0)
[Psychopathological risk in children with early onset of partial epilepsy]. (1995) (0)
Epilepsy and Movement Disorders: Preface and overview (2001) (0)
Effectiveness of antiepileptic therapy in catastrophic infantile epilepsy: Comparison of patients with SCN1A and PCDH19 mutations (2013) (0)
Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications Short SCN8A -related genotype-phenotype correlations (2021) (0)
Editorial Board (2008) (0)
Reply: (2020) (0)
Malformations of Cortical Development in Newborns: Genetic Aspects (2018) (0)
P04.08 The role of SCN1A in glioblastomas and mixed neuronal glial tumors of pediatric age (2019) (0)
The Causes of Epilepsy: Organic acid, amino acids, and peroxisomal disorders (2011) (0)
Case Studies in Epilepsy: Plate Section (2012) (0)
How to Interpret Photoparoxysmal EEG Results? (2020) (0)
List of contributors. (2019) (0)
3D human brain digital istopatology (2018) (0)
S2.5 An integrated multimodal approach for assessing functional reorganization in unilateral polymicrogyria (2011) (0)
Sequential MR angiography in childhood primary angiitis of the CNS. (2013) (0)
Pediatric Age and the Ontogeny of the Brain and Heart Connection (2020) (0)
SYNGAP1 Developmental and Epileptic Encephalopathy: Delineating the Phenotypic Spectrum (2018) (0)
Comprehensive multiomic profiling of somatic mutations in malformations of cortical development (2022) (0)
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing (2023) (0)
Editorial Board (2006) (0)
Malformations related to abnormal proliferation of neurons and glia (2003) (0)
Shaping the future of European epilepsy research: Final meeting report from EPICLUSTER (2022) (0)
Epilepsy and Movement Disorders: Non-epileptic paroxysmal eye movements (2001) (0)
Focal cortical dysplasia: a practical guide for neurologists (2023) (0)
Comprar The Causes of Epilepsy | Simon Shorvon | 9780521114479 | Cambridge University Press (2011) (0)
Editorial Board (2007) (0)
Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples (2021) (0)
The Causes of Epilepsy: Preface (2011) (0)
Reply from the Authors (1991) (0)
Epilepsy and Movement Disorders: Myoclonus and epilepsy (2001) (0)
Atypical Ocular Coloboma in Tuberous Sclerosis-2: Report of Two Novel Cases. (2020) (0)
Cornea Farinata and other Variants (2009) (0)
Nonepileptic Paroxysmal Movement Disorders (2010) (0)
The landscape of epilepsy-related GATOR1 variants (2018) (0)
Reelin and Lissencephaly (2008) (0)
Fever‐Induced and Early Morning Paroxysmal Dyskinesia in a Man With GNB1 Encephalopathy (2022) (0)
Malformations of the Cerebral Cortex as a Cause of Mental Retardation and Epilepsy: Anatomoclinical and Genetic Spectrum* (2006) (0)
Fast Progression of Cerebellar Atrophy in PLA2G6-Associated Infantile Neuronal Axonal Dystrophy (2017) (0)
12th European Congress on Epileptology, Prague, Czech Republic, 11-15 September, 2016. (2016) (0)
SYSTEMATIC LARGE SCALE GENOME-WIDE ANALYSIS OF CNVS IN PATIENTS WITH EPILEPSY PLUS (2016) (0)
Effectiveness and tolerability of Perampanel in children and adolescents with refractory epilepsies - an Italian mulicenter study. (2016) (0)
Activation of epileptiform activity during rem sleep in a case of landau kleffner syndrome a follow up study (1991) (0)
Editorial Board & Aims and Scope (2021) (0)
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders. (2022) (0)
Tissue classification and diagnostics using a fiber probe for combined Raman and fluorescence spectroscopy (2015) (0)
204 Motor impairment related to “Interictal” paroxysmal events (1998) (0)
Negative myoclonus [5] (1994) (0)
A Novel SLC5A6 Homozygous Variant in a Family with Multivitamin-Dependent Neurometabolic Disorder: Phenotype Expansion and Long-Term Follow-Up (2023) (0)
Extending the Spectrum of KCNQ2 Encephalopathy: Description of 11 Additional Patients (2013) (0)
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition. (2023) (0)
Editorial Board (2006) (0)
Probing focal cortical dysplasia in formalin fixed samples using tissue optical spectroscopy (2016) (0)
Case Studies in Epilepsy: Myoclonic seizures and recurrent nonconvulsive status epilepticus in Dravet syndrome (2012) (0)
Topographic Divergence of Atypical Cortical Asymmetry and Regional Atrophy Patterns in Temporal Lobe Epilepsy: A Worldwide ENIGMA Study (2021) (0)
Reviews-X-linked malformations migration of neuronal (2007) (0)
CPD-Education and self-assessment (2001) (0)
The Causes of Epilepsy: Afterword (2011) (0)
Scott Perry and Lisa Billars venous line Extravasation of hyperalimentation into the spinal epidural space from a central (0)
Breaking up genetic influences on seizure onset, spread, and termination (2020) (0)
Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report (2021) (0)
Are Somatic Mutations in Cortical Development the One Bad Apple That Spoils the Bunch (2015) (0)
Editorial Board (2006) (0)
Human Mutations Associated With Brain Malformations Resulting in Hyperexcitability in Rodents (2017) (0)
White matter abnormalities across different epilepsy syndromes in adults : an ENIGMA Epilepsy study Short Title : White matter across epilepsy syndromes (2020) (0)
gene in an 8 cM region of 6 q 25 . bundles owing to haploinsufficiency for a Agenesis of the corpus callosum with Probst (0)
Introduction (2004) (0)
The clinical spectrum of epilepsy (2002) (0)
Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review (2018) (0)
Editorial Board (2008) (0)
Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data (2017) (0)
[Reducing and stopping treatment]. (1990) (0)
PP270—Computational modeling of dravet syndrome (2013) (0)
Tissue classification and diagnostics using a fiber probe for combined Raman and fluorescence spectroscopy (2015) (0)
P14.6 Phase III, double-blind, randomised, placebo-controlled trial of adjunctive zonisamide treatment in paediatric patients with partial-onset seizures (Catz study): Current status (2011) (0)
Frontal lobe seizures (2002) (0)
Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy (2023) (0)
Negative mycolonus (1994) (0)
An Enhanced Distributed Computational Platform for Developmental and Epileptic Encephalopathies (2022) (0)
GENETICS | Single Gene Mutations Causing Epileptogenic Malformations of the Cerebral Cortex (2009) (0)
Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann–Pick Type C (2022) (0)
The Causes of Epilepsy: Agyria–pachygyria band spectrum (2011) (0)
Epilepsy and Movement Disorders: Plate section (2001) (0)
Functional characterization of RELN missense mutations involved in recessive and dominant forms of Neuronal Migration Disorders (2021) (0)
Editorial Board (2007) (0)
PS-59-5 Epileptic negative myoclonus: clinical aspects and neurophysiological features (1995) (0)
Generalized epilepsy in adolescence as initial manifestation of Lafora disease (2012) (0)
teach lessons on complexity Epilepsy phenotypes and genotype determinants : Identical twins (0)
Neuropsychological Outcome Following Prolonged Febrile Seizures Associated with Hippocampal Sclerosis and Temporal Lobe Epilepsy in Children (2001) (0)
The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients (2017) (0)
Cryptogenic partial epilepsy in the adult and in the child: Comparative sleep activation profile of interictal abnormalities (1988) (0)
Corrigendum to ‘Angiocentric glioma-associated seizures: The possible role of EATT2, pyruvate carboxylase and glutamine synthetase [Seizure: European Journal of Epilepsy 86 (2021) 152-154] (2021) (0)
Announcements (2010) (0)
Epileptic myoclonus and epilepsies with myoclonus (2003) (0)
Case Studies in Epilepsy: Intractable epilepsy and epilepsia partialis continua associated with respiratory chain deficiency (2012) (0)
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice (2023) (0)
Dysplasia and tumor discrimination in brain tissues by combined fluorescence, Raman, and diffuse reflectance spectroscopies. (2022) (0)
P51 – 1765 Safety and potential impact on growth and developmental skills of long-term adjunctive zonisamide therapy in paediatric patients with partial epilepsy (2013) (0)
SLC32A1 (2021) (0)
Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1 (2018) (0)
Alcohol- and Toxin-Induced Seizures (2019) (0)
Editorial Board (2007) (0)
The Causes of Epilepsy: Non-accidental brain injury (2011) (0)
[Contribution of ambulatory EEG recording (Medilog 9000) in a population of epileptics]. (1989) (0)
P199 Clinical and molecular evaluation of 14 Turkish patients with Dravet syndrome (2009) (0)
2FC1.4 Epilepsy in girls with de novo protocadherin 19 mutations. (2011) (0)
A registry for Dravet syndrome: the Italian experience. (2023) (0)
Editorial Board & Aims and Scopes (2006) (0)
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations. (2017) (0)
SLC7A3: In Silico Prediction of a Potential New Cause of Childhood Epilepsy. (2021) (0)
Case Studies in Epilepsy: Sporadic hemiplegic migraine (2012) (0)
Case Studies in Epilepsy: Contents (2012) (0)
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis. (2022) (0)
Lecture1 Syndromes with epilepsy and movement disorders (2002) (0)
Tissue classification using a fiber probe for combined Raman, fluorescence and reflectance spectroscopy (2016) (0)
Case Studies in Epilepsy: Life-threatening status epilepticus due to focal cortical dysplasia (2012) (0)
Gamma vinyl GABA (vigabatrin) monotherapy in partial epilepsy (1994) (0)
Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome. (2023) (0)
The Causes of Epilepsy: Foreword (2011) (0)
Correction to: The landscape of epilepsy-related GATOR1 variants (2018) (0)
Trisomy 12p: Report of two cases with epilepsy (1988) (0)
Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1. (2023) (0)
Generation of two hiPSC lines (UMILi027-A and UMILi028-A) from early and late-onset Congenital Central hypoventilation Syndrome (CCHS) patients carrying a polyalanine expansion mutation in the PHOX2B gene. (2022) (0)
The Genetic Landscape of Complex Childhood‐Onset Hyperkinetic Movement Disorders (2022) (0)
Neurogenetics of Epilepsy (2012) (0)
Books Received (2004) (0)
Myclonus and epilepsy (2001) (0)
GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disorders (2023) (0)
Study protocol : Safety and Efficacy of Topiramate in Neonates With Hypoxic Ischemic Encephalopathy Treated With Hypothermia ( NeoNATI ) ClinicalTrials . gov Identifier : NCT 01241019 ISRCTN 62175998 (2012) (0)
Anthony JAMES Barkovich (2021) (0)
From monogenic to polygenic: Insights or distractions? (2007) (0)
Focal Cortical Dysplasia IIIa in Hippocampal Sclerosis-Associated Epilepsy: Anatomo-Electro-Clinical Profile and Surgical Results From a Multicentric Retrospective Study (2021) (0)
Case Studies in Epilepsy: Functional hemispherotomy for drug-resistant post-traumatic epilepsy (2012) (0)
Real-Time, 2D and 3D Ultrasound Evaluation of Needle-Free Vaccination Devices (2013) (0)
RESISTANCE AU TRAITEMENT ET SYNDROME EPILEPTIQUE: ETUDE RETROSPECTIVE DE 500 DOSSIERS CLASSES SELON LA CLASSIFICATION INTERNATIONALE DE 1989 (1991) (0)
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum (2021) (0)
Mirror syndromes regarding AKT3 mutations: Loss of function variant leading to microcephaly (2020) (0)
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations (2021) (0)
Editorial Board (2008) (0)
Cultural relevance of the global impact of Dravet Syndrome in Australia, Italy, the US and UK (2017) (0)
The Causes of Epilepsy: Severe myoclonic epilepsy of infancy or Dravet syndrome (2011) (0)
24 – Overview of Human Brain Malformations (2017) (0)
Subcortical structures and infantile spasms (2008) (0)
Case Studies in Epilepsy (2012) (0)
Epileptic seizures as presenting symptom of the shaken baby syndrome (2012) (0)
The Causes of Epilepsy: Plate section (2011) (0)
Impact of Fenfluramine on Drop Seizure Frequency in Adults or Dose-Capped Patients With Lennox-Gastaut Syndrome: Comparative Analysis of Clinical Trial Data (S44.002) (2023) (0)
Response to the letter to the Editor regarding "Leigh-like neuroimaging features associated with new bi-allelic mutations in OPA1". (2017) (0)
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish (2019) (0)
Fetal Presentation of Walker-Warburg Syndrome with Compound Heterozygous POMT2 Missense Mutations (2022) (0)
Hemicerebellitis can drive handedness shift (2017) (0)
Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9 (2018) (0)
Case Studies in Epilepsy: Epileptic spasms and abnormal neuronal migration (2012) (0)
Multimodal mapping of regional brain vulnerability to focal cortical dysplasia. (2023) (0)
Periventricularlaminar Heterotopia (PLH): Characterization in a Series of 18 Patients (P7.326) (2014) (0)
P850: Electrophysiological pattern in GLUT1 deficiency syndrome (A275T mutation) (2014) (0)
Chapter 5 – Epilepsy in cerebral palsy (2009) (0)
GENETICS | ARX Gene Mutations and X-linked Infantile Spasms (2009) (0)
Non-invasive tissue diagnostics using a multimodal spectroscopic device based on fiber probe (2014) (0)
Use of cenobamate for the treatment of focal epilepsy: an Italian expert opinion paper (2022) (0)
Reflex Epilepsy with Higher-Level Processing (2019) (0)
Photosensitivity, Epileptic Seizures and Epileptic Syndromes (2010) (0)
Case Studies in Epilepsy: Childhood occipital idiopathic epilepsy (2012) (0)
Neuropsychological observations in a case of acquired aphasia associated with an unusual EEG curve during sleep (1990) (0)
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly (2018) (0)
Genetics of Familial Adult Myoclonus Epilepsy: From linkage studies to non-coding repeat expansions. (2023) (0)
A Primate-Specific Isoform of PLEKHG 6 Regulates Neurogenesis and Neuronal Migration Graphical (2018) (0)
CPD—Education and self-assessment: Publisher’s Announcement (2001) (0)
Case Studies in Epilepsy: Febrile infectious-related epilepsy syndrome (FIRES) (2012) (0)
Poster Exhibit 2nd: Thursday, 7 October – Saturday, 9 October (2010) (0)
Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review (2023) (0)
PREDICTORS OF CORTICAL REPRESENTATION IN PATIENTS WITH LESIONAL EPILEPSY: AN FMRI STUDY (2016) (0)
Impact of cordectomy on nocturnal muscle effort indexes in a patient with respiratory stridor caused by hereditary motor neuropathy (2017) (0)
Editorial Board (2008) (0)
Structural network alterations in focal and generalized epilepsy follow axes of epilepsy risk gene expression: An ENIGMA study (2021) (0)
Reply (1997) (0)
Physiology of Human Photosensitivity Hardware-dependent Triggering Mechanisms (2003) (0)
Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene (2022) (0)
Therapy and Clinical Course in 52 Patients with PCDH19 Mutations (2015) (0)
P2.17 Non invasive functional mapping in children with symptomatic perirolandic seizures: the contribution of functional MRI during passive motor tasks (2011) (0)
Chapter 21 Reelin and Lissencephaly (0)
Case Studies in Epilepsy: Epileptic negative myoclonus in benign rolandic epilepsy (2012) (0)
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2 (2016) (0)
Extended Glasgow Outcome Scale to Evaluate the Functional Impairment of Patients With Subcortical Band Heterotopia: A Multicentric Cross-sectional Study. (2023) (0)
Correction: The landscape of epilepsy-related GATOR1 variants (2018) (0)
Narcolepsy is a paediatric disease: Use red flags to recognise it (2020) (0)
Mosaic and constitutional mutations of MTOR cause a spectrum of developmental brain disorders from focal cortical dysplasia to diffuse megalencephaly (2016) (0)
Pallister—Killian syndrome: an unusual cause of epileptic spasms (2005) (0)
SLC32A1: One More Gene Contributing to the Solution of the Genetic Generalized Epilepsies Mystery. (2021) (0)
Introduction (2009) (0)
Italian League Against Epilepsy (LICE). Introduction. (2009) (0)
Editorial Board (2008) (0)
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity (2019) (0)
Case Studies in Epilepsy: Benign rolandic epilepsy (2012) (0)
Similar increases in extracellular lactate in the limbic system after epileptic and olfactory stimulation.. (1997) (0)
Fenfluramine Treatment Is Associated With Improvement in Everyday Executive Function in Adults With Lennox-Gastaut Syndrome: Post-Hoc Analysis of Dose Effects From a Phase 3 Trial Rationale (P11-1.001) (2023) (0)
Contents Vol. 91, 2013 (2013) (0)

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What Schools Are Affiliated With Renzo Guerrini?

Renzo Guerrini is affiliated with the following schools:

Consorzio ICoN
University of Florence