Ingrid Scheffer
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Australian paediatric neurologist
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Philosophy
Ingrid Scheffer's Degrees
- PhD Genetics University of Melbourne
Why Is Ingrid Scheffer Influential?
(Suggest an Edit or Addition)According to Wikipedia, Ingrid Eileen Scheffer is an Australian paediatric neurologist and senior research fellow at the Florey Institute of Neuroscience and Mental Health. She has made several major advances in the field of epilepsy research. Scheffer is credited with finding the first gene implicated in epilepsy. She has also described and classified novel epileptic syndromes such as Epilepsy limited to Females with Mental Retardation.
Ingrid Scheffer'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
- Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005–2009 (2010) (3881)
- ILAE Official Report: A practical clinical definition of epilepsy (2014) (3352)
- ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology (2017) (2773)
- Operational classification of seizure types by the International League Against Epilepsy: Position Paper of the ILAE Commission for Classification and Terminology (2017) (1891)
- A definition and classification of status epilepticus – Report of the ILAE Task Force on Classification of Status Epilepticus (2015) (1423)
- Analysis of shared heritability in common disorders of the brain (2016) (1385)
- A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy (1995) (1063)
- Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel ß1 subunit gene SCN1B (1998) (1027)
- doublecortin , a Brain-Specific Gene Mutated in Human X-Linked Lissencephaly and Double Cortex Syndrome, Encodes a Putative Signaling Protein (1998) (1009)
- De novo mutations in the classic epileptic encephalopathies (2013) (923)
- Mutations in filamin 1 Prevent Migration of Cerebral Cortical Neurons in Human Periventricular Heterotopia (1998) (840)
- Mutant GABAA receptor γ2-subunit in childhood absence epilepsy and febrile seizures (2001) (698)
- Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. (1997) (697)
- Trial of Cannabidiol for Drug‐Resistant Seizures in the Dravet Syndrome (2017) (679)
- Instruction manual for the ILAE 2017 operational classification of seizure types (2017) (606)
- Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 (2013) (583)
- Refining analyses of copy number variation identifies specific genes associated with developmental delay (2014) (536)
- Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder. (1995) (499)
- The spectrum of SCN1A-related infantile epileptic encephalopathies. (2007) (491)
- Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. (2002) (433)
- Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy (2002) (424)
- KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy (2012) (414)
- The genetic landscape of the epileptic encephalopathies of infancy and childhood (2016) (403)
- Targeted sequencing identifies 91 neurodevelopmental disorder risk genes with autism and developmental disability biases (2017) (392)
- X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment (2008) (386)
- Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. (2001) (359)
- Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. (2001) (352)
- SCN1A mutations and epilepsy (2005) (347)
- Optimal clinical management of children receiving dietary therapies for epilepsy: Updated recommendations of the International Ketogenic Diet Study Group (2018) (343)
- Sodium-channel defects in benign familial neonatal-infantile seizures (2002) (341)
- Epilepsy (2018) (340)
- De novo mutations in ATP1A3 cause alternating hemiplegia of childhood (2012) (329)
- GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies. (2004) (329)
- Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2 (1995) (324)
- GRIN2A mutations cause epilepsy-aphasia spectrum disorders (2013) (316)
- Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder (1994) (315)
- Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy (2012) (303)
- Periventricular Heterotopia: An X-Linked Dominant Epilepsy Locus Causing Aberrant Cerebral Cortical Development (1996) (295)
- CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. (2001) (294)
- Mutations in DEPDC5 cause familial focal epilepsy with variable foci (2013) (291)
- Generalized epilepsy with febrile seizures plus: A common childhood‐onset genetic epilepsy syndrome (1999) (279)
- High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. (2017) (276)
- Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. (2001) (273)
- De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies. (2017) (272)
- De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study (2006) (269)
- Apractical clinical definition of epilepsy (2014) (266)
- New concepts in classification of the epilepsies: Entering the 21st century (2011) (263)
- Navigating the channels and beyond: unravelling the genetics of the epilepsies (2008) (263)
- Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. (2006) (259)
- Benign familial neonatal‐infantile seizures: Characterization of a new sodium channelopathy (2004) (256)
- SRPX2 mutations in disorders of language cortex and cognition. (2006) (253)
- Early‐onset absence epilepsy caused by mutations in the glucose transporter GLUT1 (2009) (249)
- KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine (2014) (245)
- Phenotypic Characterization of an α4 Neuronal Nicotinic Acetylcholine Receptor Subunit Knock-Out Mouse (2000) (243)
- PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. (2012) (228)
- The genetics of Dravet syndrome (2011) (227)
- Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies (2014) (222)
- Dominant‐negative effects of KCNQ2 mutations are associated with epileptic encephalopathy (2014) (221)
- Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. (2009) (220)
- The phenotypic spectrum of SCN8A encephalopathy (2015) (219)
- Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis (2014) (218)
- Failure to confirm association of a polymorphism in ABCB1 with multidrug-resistant epilepsy (2004) (218)
- GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome (2014) (216)
- A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy (2014) (214)
- Rare copy number variants are an important cause of epileptic encephalopathies (2011) (213)
- Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies (2018) (213)
- Severe Myoclonic Epilepsy of Infancy: Extended Spectrum of GEFS+? (2001) (211)
- The new definition and classification of seizures and epilepsy (2018) (208)
- Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. (2010) (206)
- Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants (2007) (203)
- Exome‐based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy (2016) (202)
- Early and effective treatment of KCNQ2 encephalopathy (2015) (201)
- Distinguishing sleep disorders from seizures: diagnosing bumps in the night. (2006) (199)
- Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX (2002) (197)
- De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. (2016) (197)
- Human epilepsies: interaction of genetic and acquired factors (2006) (196)
- Definition and diagnostic criteria of sleep-related hypermotor epilepsy (2016) (195)
- Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. (1998) (195)
- Sodium channel α1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms (2003) (192)
- Genetic testing in the epilepsies—Report of the ILAE Genetics Commission (2010) (191)
- Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations (2014) (190)
- Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study (2007) (189)
- Mortality in Dravet syndrome (2016) (184)
- Epilepsy and mental retardation limited to females: an under-recognized disorder. (2008) (180)
- Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals (2019) (176)
- Ultra-rare genetic variation in common epilepsies: a case-control sequencing study (2017) (173)
- Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology (2011) (173)
- Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies (2018) (172)
- Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A (2013) (172)
- Quinidine in the treatment of KCNT1‐positive epilepsies (2015) (171)
- Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy (2015) (171)
- Somatic mutations in cerebral cortical malformations. (2014) (171)
- Characterization of mutations in the gene doublecortin in patients with double cortex syndrome (1999) (165)
- Channelopathies as a genetic cause of epilepsy (2003) (164)
- A roadmap for precision medicine in the epilepsies (2015) (162)
- Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations (2010) (161)
- Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus? (2009) (160)
- A variant of KCC2 from patients with febrile seizures impairs neuronal Cl− extrusion and dendritic spine formation (2014) (159)
- SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis (2009) (158)
- GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects (2017) (158)
- Generalized epilepsy with febrile seizures plus: Mutation of the sodium channel subunit SCN1B (2002) (154)
- Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures. (2015) (151)
- Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation. (2003) (151)
- The genetics of human epilepsy. (2003) (151)
- Severe myoclonic epilepsy of infancy (Dravet syndrome): Recognition and diagnosis in adults (2006) (151)
- Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency (2010) (145)
- Autosomal dominant rolandic epilepsy and speech dyspraxia: A new syndrome with anticipation (1995) (144)
- Extending the KCNQ2 encephalopathy spectrum (2013) (143)
- Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures (2015) (142)
- Genetic Architecture of Idiopathic Generalized Epilepsy: Clinical Genetic Analysis of 55 Multiplex Families (2004) (141)
- Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum. (2013) (138)
- Electroclinical features of absence seizures in childhood absence epilepsy (2006) (134)
- Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. (2012) (134)
- Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID (2016) (133)
- SCN2A encephalopathy (2015) (130)
- Glucose transporter 1 deficiency in the idiopathic generalized epilepsies (2012) (125)
- Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study (2010) (125)
- The core network in absence epilepsy (2010) (125)
- A de novo mutation in sporadic nocturnal frontal lobe epilepsy (2000) (121)
- Recent advances in the molecular genetics of epilepsy (2013) (120)
- Dose-Ranging Effect of Adjunctive Oral Cannabidiol vs Placebo on Convulsive Seizure Frequency in Dravet Syndrome (2020) (120)
- Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients (2015) (119)
- Mirror neuron system involvement in empathy: A critical look at the evidence (2011) (117)
- Keeping people with epilepsy safe during the COVID-19 pandemic (2020) (117)
- Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy (2012) (117)
- Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. (2011) (117)
- Familial partial epilepsy with variable foci: A new partial epilepsy syndrome with suggestion of linkage to chromosome 2 (1998) (116)
- Genetic variation of CACNA1H in idiopathic generalized epilepsy (2004) (114)
- Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion (2009) (113)
- SLC25A22 is a novel gene for migrating partial seizures in infancy (2013) (112)
- Susceptibility genes for complex epilepsy. (2005) (111)
- AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders (2019) (111)
- De novo SCN1A mutations in migrating partial seizures of infancy (2011) (111)
- A new molecular mechanism for severe myoclonic epilepsy of infancy: Exonic deletions in SCN1A (2006) (110)
- Augmented currents of an HCN2 variant in patients with febrile seizure syndromes (2010) (106)
- Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters (2002) (106)
- Mutations in KCNT1 cause a spectrum of focal epilepsies (2015) (105)
- SCN2A Mutations and Benign Familial Neonatal‐Infantile Seizures: The Phenotypic Spectrum (2007) (103)
- CHD2 variants are a risk factor for photosensitivity in epilepsy (2015) (103)
- Neuropsychological and functional MRI studies provide converging evidence of anterior language dysfunction in BECTS (2009) (103)
- Thalamic Atrophy in Childhood Absence Epilepsy (2006) (102)
- SCN8A encephalopathy: Research progress and prospects (2016) (102)
- Timing of de novo mutagenesis--a twin study of sodium-channel mutations. (2010) (101)
- Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy. (2010) (101)
- Autosomal dominant nocturnal frontal lobe epilepsy: Demonstration of focal frontal onset and intrafamilial variation (1997) (99)
- Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females. (2002) (99)
- Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain. (1997) (99)
- A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development (2018) (99)
- Autoantibodies and epilepsy (2011) (99)
- The phenotype of SCN8A developmental and epileptic encephalopathy (2018) (95)
- Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12. (1999) (95)
- Occipital epilepsies: identification of specific and newly recognized syndromes. (2003) (95)
- Heart rate variability in epilepsy: A potential biomarker of sudden unexpected death in epilepsy risk (2018) (95)
- Long‐term follow‐up of febrile infection–related epilepsy syndrome (2012) (94)
- Precision therapy for epilepsy due to KCNT1 mutations (2018) (93)
- Channelopathies in idiopathic epilepsy (2007) (92)
- Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency (2012) (91)
- Progressive gait deterioration in adolescents with Dravet syndrome. (2012) (90)
- Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. (2016) (90)
- X-linked myoclonic epilepsy with spasticity and intellectual disability: Mutation in the homeobox gene ARX (2002) (90)
- Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency. (2015) (89)
- Genetic and neuroradiological heterogeneity of double cortex syndrome (2000) (88)
- LGI1 mutations in temporal lobe epilepsies (2004) (87)
- Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5 (2015) (87)
- Focal epileptiform spikes do not show a canonical BOLD response in patients with benign rolandic epilepsy (BECTS) (2010) (87)
- The management of epilepsy in children and adults (2018) (86)
- Genetic epilepsy with febrile seizures plus (2017) (85)
- Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice (2008) (85)
- Parental Mosaicism in "De Novo" Epileptic Encephalopathies. (2018) (85)
- SCN1A‐related phenotypes: Epilepsy and beyond (2019) (85)
- Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group (2020) (85)
- Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome (2015) (85)
- Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3 (2019) (84)
- Classification of the epilepsies: New concepts for discussion and debate—Special report of the ILAE Classification Task Force of the Commission for Classification and Terminology† (2016) (84)
- Motor cortex localization using functional MRI and transcranial magnetic stimulation. (1999) (82)
- Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families (2009) (81)
- Efficacy of the ketogenic diet: Which epilepsies respond? (2012) (81)
- Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy (2017) (78)
- Independent Occurrence of the CHRNA4 Ser248Phe Mutation in a Norwegian Family with Nocturnal Frontal Lobe Epilepsy (2000) (78)
- ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions (2022) (77)
- Copy number variants are frequent in genetic generalized epilepsy with intellectual disability (2013) (76)
- A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel (2007) (76)
- International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions (2022) (76)
- Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy (2017) (75)
- The ventrolateral medulla and medullary raphe in sudden unexpected death in epilepsy (2018) (75)
- Familial mesial temporal lobe epilepsy: a benign epilepsy syndrome showing complex inheritance. (2010) (74)
- Occipital epilepsies: identification of specific and newly recognized syndromes 1 1 Edited by Hans E (2003) (74)
- PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures (2012) (74)
- Is the ketogenic diet effective in specific epilepsy syndromes? (2012) (74)
- Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures (2007) (73)
- CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures (2015) (73)
- Revised terminology and concepts for organization of the epilepsies: Report of the Commission on Classification and Terminology (2009) (73)
- Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 (2019) (73)
- Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy (2015) (72)
- 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)
- Analyzing the Etiology of Benign Rolandic Epilepsy: A Multicenter Twin Collaboration (2006) (70)
- Juvenile myoclonic epilepsy and idiopathic photosensitive occipital lobe epilepsy: is there overlap? (2004) (70)
- Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria (2013) (70)
- TBC1D24 genotype–phenotype correlation (2016) (70)
- EEG features of absence seizures in idiopathic generalized epilepsy: Impact of syndrome, age, and state (2009) (70)
- Generalized epilepsy with febrile seizures plus–associated sodium channel β1 subunit mutations severely reduce beta subunit–mediated modulation of sodium channel function (2007) (69)
- A new locus for generalized epilepsy with febrile seizures plus maps to chromosome 2. (2000) (69)
- Not all SCN1A epileptic encephalopathies are Dravet syndrome (2017) (69)
- Pitfalls in genetic testing: the story of missed SCN1A mutations (2016) (69)
- Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction (2004) (68)
- FOXP2-Related Speech and Language Disorders (2016) (68)
- Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (2020) (67)
- A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity (2018) (66)
- SCN1A testing for epilepsy: Application in clinical practice (2013) (66)
- Seizures Are Regulated by Ubiquitin-specific Peptidase 9 X-linked (USP9X), a De-Ubiquitinase (2015) (66)
- Phenotypic Comparison of Two Scottish Families with Mutations in Different Genes Causing Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (2003) (66)
- Deciphering the concepts behind "Epileptic encephalopathy" and "Developmental and epileptic encephalopathy". (2019) (66)
- Neonatal seizures and long QT Syndrome: A cardiocerebral channelopathy? (2010) (65)
- Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy (2018) (65)
- SYNGAP1 encephalopathy (2018) (64)
- Translational research in epilepsy genetics: sodium channels in man to interneuronopathy in mouse. (2009) (64)
- Benign occipital epilepsies of childhood: clinical features and genetics. (2008) (63)
- Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings (2000) (63)
- The clinical utility of an SCN1A genetic diagnosis in infantile‐onset epilepsy (2013) (62)
- Genetics of temporal lobe epilepsy (2003) (62)
- Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain‐of‐function variants R201C and R201H (2017) (61)
- Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients (2010) (61)
- 4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment. (2009) (61)
- Familial Partial Epilepsy with Variable Foci: Clinical Features and Linkage to Chromosome 22q12 (2004) (61)
- Human Nocturnal Frontal Lobe Epilepsy: Pharmocogenomic Profiles of Pathogenic Nicotinic Acetylcholine Receptor β-Subunit Mutations outside the Ion Channel Pore (2008) (61)
- A population‐based cost‐effectiveness study of early genetic testing in severe epilepsies of infancy (2018) (61)
- Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy (2015) (60)
- Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers (2013) (60)
- Neonatal Epilepsy Syndromes and Generalized Epilepsy with Febrile Seizures Plus (GEFS+) (2005) (60)
- Febrile seizures: genetics and relationship to other epilepsy syndromes. (1998) (58)
- Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy (2016) (58)
- Diagnosis and long-term course of Dravet syndrome. (2012) (58)
- 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. (2014) (58)
- Familial clustering of seizure types within the idiopathic generalized epilepsies (2005) (57)
- Ectopic posterior pituitary lobe and periventricular heterotopia: cerebral malformations with the same underlying mechanism? (2002) (57)
- Genetics of the epilepsies. (2000) (57)
- Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome (2013) (57)
- Epilepsy Genetics Revolutionizes Clinical Practice (2014) (56)
- Reduced striatal D1 receptor binding in autosomal dominant nocturnal frontal lobe epilepsy (2008) (56)
- Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies. (2018) (56)
- A Multicenter Study of BRD2 as a Risk Factor for Juvenile Myoclonic Epilepsy (2007) (55)
- Clinical and molecular genetics of myoclonic–astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome) (2001) (55)
- NEDD4‐2 as a potential candidate susceptibility gene for epileptic photosensitivity (2007) (54)
- New Genes for Focal Epilepsies with Speech and Language Disorders (2015) (54)
- Assessment of the role of FDG PET in the diagnosis and management of children with refractory epilepsy (2005) (52)
- Is benign rolandic epilepsy genetically determined? (2004) (52)
- Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus (2004) (51)
- Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations (2012) (51)
- Epileptic spasms are a feature of DEPDC5 mTORopathy (2015) (51)
- GRIN2A: An aptly named gene for speech dysfunction (2015) (50)
- Channelopathies as a genetic cause of epilepsy. (2003) (50)
- Autism and developmental disability caused by KCNQ3 gain‐of‐function variants (2019) (50)
- Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy (2018) (50)
- De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. (2018) (49)
- De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin (2009) (49)
- Exploration of the Genetic Architecture of Idiopathic Generalized Epilepsies (2006) (49)
- Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations (2011) (48)
- Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability (2008) (47)
- Stiripentol efficacy and safety in Dravet syndrome: a 12‐year observational study (2018) (46)
- Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy. (2016) (46)
- Clinical genetic study of the epilepsy‐aphasia spectrum (2013) (46)
- ILAE definition of the Idiopathic Generalized Epilepsy Syndromes: Position statement by the ILAE Task Force on Nosology and Definitions (2022) (46)
- Lamotrigine can be beneficial in patients with Dravet syndrome (2015) (45)
- DNM1 encephalopathy (2017) (45)
- The Epilepsy Phenome/Genome Project (2013) (45)
- Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45 (2018) (45)
- The 2017 ILAE classification of seizure types and the epilepsies: what do people with epilepsy and their caregivers need to know? (2018) (44)
- Genetics of epilepsy (2014) (44)
- De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. (2017) (44)
- Whole-genome linkage scan for epilepsy-related photosensitivity: A mega-analysis (2010) (43)
- Vaccination, seizures and ‘vaccine damage’ (2007) (43)
- The role of neuronal GABAA receptor subunit mutations in idiopathic generalized epilepsies (2009) (42)
- Factors influencing clinical features of absence seizures (2008) (42)
- Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA (2019) (42)
- Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region (2019) (42)
- Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia. (2015) (41)
- A targeted resequencing gene panel for focal epilepsy (2016) (41)
- Genetics of human partial epilepsy. (1997) (41)
- Etiology of hippocampal sclerosis (2013) (40)
- Pelizaeus-Merzbacher disease: classical or connatal? (1991) (40)
- Clinical genetic studies in benign childhood epilepsy with centrotemporal spikes (2012) (40)
- A distinctive seizure type in patients with CDKL5 mutations: Hypermotor-tonic-spasms sequence (2011) (40)
- The effect of the ketogenic diet on the developing skeleton (2013) (39)
- Febrile seizures (2007) (39)
- Epilepsies with single gene inheritance (1997) (39)
- Reduced dendritic arborization and hyperexcitability of pyramidal neurons in a Scn1b-based model of Dravet syndrome. (2014) (39)
- Epilepsy and paroxysmal movement disorders in families: evidence for shared mechanisms. (1999) (39)
- Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders (2019) (38)
- Cyclin-Dependent Kinase-Like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related Disorders (2010) (38)
- Fenfluramine HCl (Fintepla®) provides long‐term clinically meaningful reduction in seizure frequency: Analysis of an ongoing open‐label extension study (2020) (38)
- Genetics of epilepsy syndromes in families with photosensitivity (2013) (38)
- Early mortality in SCN8A-related epilepsies (2018) (38)
- Sleep problems in Dravet syndrome: a modifiable comorbidity (2018) (38)
- Somatic mutation: The hidden genetics of brain malformations and focal epilepsies (2019) (38)
- A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration. (2018) (37)
- Epileptiform EEG abnormalities in children with language regression (2006) (37)
- Genetics of febrile seizure subtypes and syndromes: A twin study (2013) (36)
- The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield (2019) (36)
- Genome‐wide linkage meta‐analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies (2012) (36)
- Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation. (2018) (35)
- SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals (2019) (35)
- Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype (2015) (35)
- Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response (2019) (35)
- A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy. (2014) (35)
- Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3 (2010) (35)
- International League Against Epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE Task Force on Nosology and Definitions (2022) (34)
- Family studies of individuals with eyelid myoclonia with absences (2012) (34)
- Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain (2021) (34)
- Epilepsy with auditory features (2015) (33)
- Loss of synaptic Zn2+ transporter function increases risk of febrile seizures (2015) (33)
- Genetic Testing in Epilepsy: What Should you be Doing? (2011) (33)
- Angelman's syndrome. (1990) (33)
- Genetic literacy series: genetic epilepsy with febrile seizures plus. (2018) (33)
- Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (2000) (33)
- Glucose metabolism transporters and epilepsy: Only GLUT1 has an established role (2014) (32)
- ADGRV1 is implicated in myoclonic epilepsy (2018) (32)
- Genetic dissection of the common epilepsies (2006) (32)
- Near-total absence of the cerebellum. (2001) (31)
- A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations (2017) (30)
- Phenotypic expression of benign familial neonatal convulsions linked to chromosome 20. (1994) (30)
- Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects. (2020) (30)
- Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility (2014) (30)
- DEPDC5 as a potential therapeutic target for epilepsy (2017) (30)
- Bilateral generalized polymicrogyria (BGP) (2004) (29)
- Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy (2016) (29)
- Methodology for classification and definition of epilepsy syndromes with list of syndromes: Report of the ILAE Task Force on Nosology and Definitions (2022) (29)
- Severe Microcephaly Associated with Congenital Varicella Infection (1991) (28)
- Bilateral Posterior Periventricular Nodular Heterotopia: A Recognizable Cortical Malformation with a Spectrum of Associated Brain Abnormalities (2013) (28)
- Fatal Cerebral Edema With Status Epilepticus in Children With Dravet Syndrome: Report of 5 Cases (2017) (28)
- Perception of impact of Dravet syndrome on children and caregivers in multiple countries: looking beyond seizures (2019) (28)
- Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. (2019) (28)
- Harnessing Gene Expression Networks to Prioritize Candidate Epileptic Encephalopathy Genes (2014) (28)
- SYNGAP1 encephalopathy A distinctive generalized developmental and epileptic encephalopathy (28)
- Genetics of the Epilepsies (2000) (28)
- De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder. (2018) (28)
- Add‐on cannabidiol in patients with Dravet syndrome: Results of a long‐term open‐label extension trial (2021) (27)
- Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature (2020) (27)
- Hippocampal malrotation is an anatomic variant and has no clinical significance in MRI‐negative temporal lobe epilepsy (2016) (27)
- Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis (2012) (27)
- Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy (2013) (27)
- Efficacy of cannabinoids in paediatric epilepsy (2018) (27)
- Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy (2007) (27)
- De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always a familial syndrome (2017) (27)
- Reflex Seizures in Patients with Malformations of Cortical Development and Refractory Epilepsy (2005) (26)
- Epilepsy classification: a cycle of evolution and revolution. (2013) (25)
- Efficacy and tolerability of adjunctive lacosamide in pediatric patients with focal seizures (2019) (25)
- Familial focal epilepsy with variable foci mapped to chromosome 22q12: Expansion of the phenotypic spectrum (2012) (25)
- Gene expression analysis in absence epilepsy using a monozygotic twin design (2008) (25)
- Severe childhood speech disorder: gene discovery highlights transcriptional dysregulation (2019) (24)
- PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy (2015) (24)
- Early seizures: causal events or predisposition to adult epilepsy? (2007) (24)
- Automatisms in absence seizures in children with idiopathic generalized epilepsy. (2009) (24)
- Familial adult myoclonic epilepsy: recognition of mild phenotypes and refinement of the 2q locus. (2012) (24)
- Epilepsy in KCNH1-related syndromes. (2016) (24)
- Severe infantile epilepsies: molecular genetics challenge clinical classification. (2003) (24)
- LACK OF REPLICATION OF ASSOCIATION BETWEEN SCN1A SNP AND FEBRILE SEIZURES (2009) (24)
- Evaluation of non‐coding variation in GLUT1 deficiency (2016) (23)
- Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals. (2021) (23)
- Defining Dravet syndrome: An essential pre‐requisite for precision medicine trials (2021) (23)
- The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures (2011) (23)
- A twin study of genetic influences on epilepsy outcome. (2003) (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)
- GRIN2A-Related Speech Disorders and Epilepsy (2016) (22)
- Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy (2013) (22)
- Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome (2018) (22)
- Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome. (2020) (22)
- Frequency of CNKSR2 mutation in the X‐linked epilepsy‐aphasia spectrum (2017) (22)
- Longitudinal study of MRS metabolites in Rasmussen encephalitis. (2004) (22)
- Epilepsy with auditory features A heterogeneous clinico-molecular disease (22)
- ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria. (2021) (22)
- Features of the broader autism phenotype in people with epilepsy support shared mechanisms between epilepsy and autism spectrum disorder (2017) (22)
- Schizophrenia is a later‐onset feature of PCDH19 Girls Clustering Epilepsy (2019) (21)
- Gain‐of‐function HCN2 variants in genetic epilepsy (2018) (21)
- Severe childhood speech disorder (2020) (21)
- Phenotypic analysis of 303 multiplex families with common epilepsies (2017) (21)
- Electroencephalographic abnormalities during sleep in children with developmental speech‐language disorders: a case–control study (2009) (20)
- Early neuroimaging markers of FOXP2 intragenic deletion (2016) (20)
- Genetics of the epilepsies. (1999) (20)
- Genetics of epilepsy: epilepsy research foundation workshop report. (2007) (20)
- Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions (2020) (20)
- Multiplex families with epilepsy (2016) (20)
- Vaccination Triggers, Rather than Causes, Seizures (2015) (20)
- Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2 (2016) (20)
- Genetic analysis of PHOX2B in sudden unexpected death in epilepsy cases (2014) (19)
- Erratum: De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013)) (2017) (19)
- International consensus on diagnosis and management of Dravet syndrome (2022) (19)
- Epilepsy syndromes in children. (2005) (19)
- Copy number variants--an unexpected risk factor for the idiopathic generalized epilepsies. (2010) (19)
- A retrospective population‐based study on seizures related to childhood vaccination (2011) (19)
- Periventricular Nodular Heterotopia: Detection of Abnormal Microanatomic Fiber Structures with Whole-Brain Diffusion MR Imaging Tractography. (2016) (19)
- Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes. (2021) (19)
- NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns (2020) (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)
- Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+? (2009) (19)
- Dysarthria and broader motor speech deficits in Dravet syndrome (2017) (19)
- GLUT1 deficiency (2012) (18)
- A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy (2020) (18)
- Neuronal ceroid lipofuscinosis type 2: an Australian case series (2020) (18)
- Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy (2017) (18)
- Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family (2010) (18)
- Milder phenotypes of glucose transporter type 1 deficiency syndrome (2011) (18)
- Head stereotypies in STXBP1 encephalopathy (2013) (18)
- Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline (2014) (17)
- Autosomal dominant rolandic epilepsy with speech dyspraxia. (2001) (17)
- The severe epilepsy syndromes of infancy: A population‐based study (2021) (17)
- Is Variation in the GABA(B) Receptor 1 Gene Associated with Temporal Lobe Epilepsy? (2005) (17)
- In vivo loss of slow potassium channel activity in individuals with benign familial neonatal epilepsy in remission. (2012) (17)
- Detection of microchromosomal aberrations in refractory epilepsy: a pilot study (2010) (17)
- In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery (2016) (17)
- The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant (2018) (17)
- Distinguishing Sleep Disorders From Seizures (2006) (17)
- BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures (2019) (16)
- A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts (2016) (16)
- Dorsal language stream anomalies in an inherited speech disorder (2019) (15)
- Parental health spillover effects of paediatric rare genetic conditions (2020) (15)
- Seizure semiology in autosomal dominant epilepsy with auditory features, due to novel LGI1 mutations (2013) (15)
- Neuropsychological function in patients with a single gene mutation associated with autosomal dominant nocturnal frontal lobe epilepsy (2010) (15)
- Electroclinical features of absence seizures in sleep (2011) (15)
- GENETIC-HETEROGENEITY IN AUTOSOMAL-DOMINANT NOCTURNAL FRONTAL-LOBE EPILEPSY (1995) (15)
- Cognitive, behavioral, and social functioning in children and adults with Dravet syndrome (2020) (15)
- Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly (2020) (14)
- Myoclonic Absence Seizures in Dravet Syndrome. (2017) (14)
- SCN1A Variants in vaccine‐related febrile seizures: A prospective study (2019) (14)
- The epileptology of Koolen‐de Vries syndrome: Electro‐clinico‐radiologic findings in 31 patients (2017) (14)
- Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy (2020) (14)
- Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies (2013) (14)
- Levetiracetam efficacy in PCDH19 Girls Clustering Epilepsy. (2020) (14)
- A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy (2010) (13)
- Locus for febrile seizures (2000) (13)
- Periventricular heterotopia in 6 q terminal deletion syndrome : role of the C 6 orf 70 gene (2013) (13)
- Autosomal dominant vasovagal syncope (2013) (13)
- Familial mesial temporal lobe epilepsy and the borderland of déjà vu (2017) (13)
- Febrile infection-related epilepsy syndrome is not caused by SCN1A mutations (2012) (12)
- How long should a routine EEG be? (1999) (12)
- PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic Spectrum. (2020) (12)
- Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families (2020) (12)
- Randomized Controlled Trial of Melatonin for Sleep Disturbance in Dravet Syndrome: The DREAMS Study. (2018) (12)
- Rare protein sequence variation in SV2A gene does not affect response to levetiracetam (2012) (12)
- The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications (2022) (12)
- Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia (2019) (12)
- Investigation of the 15q13.3 CNV as a genetic modifier for familial epilepsies with variable phenotypes (2011) (12)
- Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome (2018) (12)
- Cardiac phenotype in ATP1A3-related syndromes (2020) (12)
- Climate change and epilepsy: Insights from clinical and basic science studies (2021) (12)
- Focal epilepsy in SCN1A‐mutation carrying patients: is there a role for epilepsy surgery? (2020) (12)
- Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome (2020) (12)
- GEFS+ where focal seizures evolve from generalized spike wave: video-EEG study of two children. (2007) (12)
- Favourable response to ketogenic dietary therapies: undiagnosed glucose 1 transporter deficiency syndrome is only one factor (2015) (11)
- Epilepsy: Beyond the single nucleotide variant in epilepsy genetics (2014) (11)
- Autosomal recessive microcephaly with severe psychomotor retardation. (1992) (11)
- Is Photosensitive Epilepsy Less Common in Males Due to Variation in X Chromosome Photopigment Genes? (2007) (11)
- Cation leak underlies neuronal excitability in an HCN1 developmental and epileptic encephalopathy. (2021) (11)
- Epilepsy: A classification for all seasons? (2012) (11)
- Severe speech impairment is a distinguishing feature of FOXP1‐related disorder (2021) (11)
- Diverse genetic causes of polymicrogyria with epilepsy (2021) (11)
- Diverse genetic causes of polymicrogyria with epilepsy (2021) (11)
- MRI and pathology correlations in the medulla in sudden unexpected death in epilepsy (SUDEP): a postmortem study (2020) (10)
- The epileptology of GNB5 encephalopathy (2019) (10)
- Safety and Tolerability of Transdermal Cannabidiol Gel in Children With Developmental and Epileptic Encephalopathies: A Nonrandomized Controlled Trial. (2021) (10)
- Are epilepsy classifications based on epileptic syndromes and seizure types outdated? (2006) (10)
- “It's good to know”: Experiences of gene identification and result disclosure in familial epilepsies (2015) (10)
- Clinical and genetic analysis of a family with two rare reflex epilepsies (2015) (10)
- Febrile Convulsions and Genetic Susceptibility: Role of the Neuronal Nicotinic Acetylcholine Receptor α4 Subunit (2004) (10)
- Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification. (2020) (10)
- GRIN2A (2015) (10)
- Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy (2020) (10)
- Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients (2020) (10)
- Efficacy and Safety of Fenfluramine for the Treatment of Seizures Associated With Lennox-Gastaut Syndrome (2022) (10)
- Do mutations in SCN1B cause Dravet syndrome? (2013) (9)
- 2017 International League Against Epilepsy classifications of seizures and epilepsy are steps in the right direction (2019) (9)
- What is at stake in a classification? (2011) (9)
- The ketogenic diet is effective for refractory epilepsy associated with acquired structural epileptic encephalopathy (2018) (9)
- Does genotype determine phenotype? (2011) (9)
- Genetics of the epilepsies: Genetic twists in the channels and other tales (2010) (9)
- Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations. (2017) (9)
- Speech and language in bilateral perisylvian polymicrogyria: a systematic review (2019) (9)
- Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy? (2020) (9)
- Optimizing electroencephalographic studies for epilepsy diagnosis in children with new-onset seizures. (2010) (9)
- The aetiologies of epilepsy. (2021) (9)
- A case series of lacosamide as adjunctive therapy in refractory sleep‐related hypermotor epilepsy (previously nocturnal frontal lobe epilepsy) (2018) (9)
- EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities. (2020) (9)
- Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood (2022) (9)
- Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection (2019) (8)
- Transition to adult life in the monogenic epilepsies (2014) (8)
- Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania (2019) (8)
- New autosomal-dominant partial epilepsy syndrome (1994) (8)
- Development of a rapid functional assay that predicts GLUT1 disease severity (2018) (8)
- Genetics of idiopathic epilepsies. (2013) (8)
- Natural History Studies and Clinical Trial Readiness for Genetic Developmental and Epileptic Encephalopathies (2021) (8)
- Antiepileptic Drug Teratogenicity and De Novo Genetic Variation Load (2020) (7)
- COVID‐19 vaccine in patients with Dravet syndrome: Observations and real‐world experiences (2022) (7)
- Classification and clinical features of absence epilepsies: How evidence leads to changing concepts (2008) (7)
- Self-limited focal epilepsy and childhood apraxia of speech with WAC pathogenic variants. (2020) (7)
- Cyclin-Dependent Kinase-Like 5 ( CDKL 5 ) Mutation Screening in Rett Syndrome and Related Disorders (2010) (7)
- Variants in KCNJ11 and BAD do not predict response to ketogenic dietary therapies for epilepsy (2015) (7)
- Epilepsy and Movement Disorders: Opercular epilepsies with oromotor dysfunction (2001) (7)
- Splice variant in ARX leading to loss of C‐terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy (2019) (7)
- Medullary tyrosine hydroxylase catecholaminergic neuronal populations in sudden unexpected death in epilepsy (2020) (7)
- Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies (2022) (7)
- Paroxysmal eyelid movements: A confusing feature of generalized photosensitive epilepsy (2004) (6)
- Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus? (2016) (6)
- Does variation in NIPA2 contribute to genetic generalized epilepsy? (2014) (6)
- Human GABRG2 generalized epilepsy (2019) (6)
- Dravet syndrome: A quick transition guide for the adult neurologist (2021) (6)
- Cognitive processes predicting advanced theory of mind in the broader autism phenotype (2020) (6)
- How long for epilepsy remission in the ILAE definition? (2017) (6)
- A new classification and class 1 evidence transform clinical practice in epilepsy (2018) (6)
- 3940 Decreased Apparent Fibre Density in Dravet Syndrome (2013) (6)
- Rare sudden unexpected death in epilepsy SCN5A variants cause changes in channel function implicating cardiac arrhythmia as a cause of death (2022) (6)
- Seizures in Sotos syndrome: Phenotyping in 49 patients (2021) (6)
- The phenotypic spectrum of X‐linked, infantile onset ALG13‐related developmental and epileptic encephalopathy (2021) (6)
- Benign Neonatal Sleep Myoclonus (2012) (6)
- Contribution of rare genetic variants to drug response in absence epilepsy (2021) (6)
- Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus (2021) (6)
- Multifocal epilepsy: the role of palliative resection - intractable frontal and occipital lobe epilepsy secondary to radiotherapy for acute lymphoblastic leukaemia. (2008) (6)
- Extreme virilization in patients with congenital adrenal hyperplasia fails to induce descent of the ovary (1988) (6)
- Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy (2015) (6)
- De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. (2019) (6)
- Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy (2022) (6)
- Genetic linkage studies in familial frontal epilepsy: Exclusion of the human chromosome regions homologous to the El-1 mouse locus (1995) (6)
- Myoclonic occipital photosensitive epilepsy with dystonia (MOPED): A familial epilepsy syndrome (2015) (6)
- Defining the phenotype of FHF1 developmental and epileptic encephalopathy (2020) (6)
- Evaluation of GLUT1 variation in non-acquired focal epilepsy (2017) (6)
- Genome‐wide association study: Exploring the genetic basis for responsiveness to ketogenic dietary therapies for drug‐resistant epilepsy (2018) (6)
- Genetics of the epilepsies: Channelopathies and beyond (2011) (5)
- Association of a nicotinic receptor mutation with reduced height and blunted physostigmine-stimulated growth hormone release. (2008) (5)
- FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability (2020) (5)
- Functional correlates of clinical phenotype and severity in recurrent SCN2A variants (2022) (5)
- Targeted resequencing in epileptic encephalopathies reveals marked genetic heterogeneity and novel genes (2013) (5)
- Therapeutic use of medicinal cannabis in difficult to manage epilepsy (2018) (5)
- Fragile Females: Case Series of Epilepsy in Girls With FMR1 Disruption (2019) (5)
- Pathogenic MAST3 variants in the STK domain are associated with epilepsy (2021) (5)
- Precision Medicine Approaches for Infantile-Onset Developmental and Epileptic Encephalopathies. (2021) (5)
- Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes (2022) (5)
- Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder (2021) (5)
- Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes (2022) (5)
- Double somatic mosaicism in a child with Dravet syndrome (2019) (5)
- Genetic Contributions to Acquired Epilepsies (2020) (5)
- Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (2020) (5)
- Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype (2019) (4)
- Myoclonic absence seizures with complex gestural automatisms. (2017) (4)
- Self‐reported impact of developmental stuttering across the lifespan (2022) (4)
- Superior verbal ability and nonverbal learning disability in a child with a novel 17p12p13.1 deletion (2005) (4)
- Hemiconvulsion-hemiplegia-epilepsy evolving to contralateral hemi-Lennox-Gastaut-like phenotype (2018) (4)
- Siblings with refractory occipital epilepsy showing localized network activity on EEG‐fMRI (2013) (4)
- No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy (2019) (4)
- Generation of seven iPSC lines from peripheral blood mononuclear cells suitable to investigate Autism Spectrum Disorder. (2019) (4)
- Ictal recordings in benign partial epilepsy of childhood with centrotemporal spikes (1995) (4)
- The role of genetics and ethnicity in epilepsy management (2005) (4)
- Genetic (Generalized) Epilepsy with Febrile Seizures Plus (2008) (4)
- When Monogenic Isn’t Monogenic—Unravelling the Oligogenic Architecture of the Developmental and Epileptic Encephalopathies (2019) (4)
- Association studies and functional validation or functional validation alone? (2007) (4)
- A pharmacogenomic assessment of psychiatric adverse drug reactions to levetiracetam (2022) (4)
- MRI and pathology correlations in the medulla in SUDEP: A post-mortem study. (2020) (4)
- Postictal Psychosis in Epilepsy: A Clinicogenetic Study (2021) (4)
- Speech, Language, and Oromotor Skills in Patients With Polymicrogyria (2021) (4)
- Amygdala dysplasia with temporal lobe epilepsy and obsessive-compulsive disorder: An fMRI/EEG study (2005) (3)
- Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. (2022) (3)
- Epilepsy in 2012: Advances in epilepsy shed light on key questions (2013) (3)
- Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery (2022) (3)
- Long-Term Cardiovascular Safety of Fenfluramine HCl in the Treatment of Dravet Syndrome: Interim Analysis of an Open-Label Safety Extension Study (2019) (3)
- Fenfluramine Treatment Improves Everyday Executive Functioning in Patients with Lennox-Gastaut Syndrome: Analysis from a Phase 3 Clinical Trial (2021) (3)
- Using common genetic variants to find drugs for common epilepsies (2021) (3)
- KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood (2018) (3)
- Novel mutations in the KCNQ 2 gene link epilepsy to a dysfunction of the KCNQ 2-calmodulin interaction (2004) (3)
- Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay (2018) (3)
- Transcriptome analysis of a ring chromosome 20 patient cohort (2020) (3)
- Loss‐of‐function variants in Kv11.1 cardiac channels as a biomarker for SUDEP (2021) (3)
- Classification as autonomic versus sensory seizures (2019) (3)
- Febrile seizures. (2005) (3)
- Cannabidiol (CBD) reduces convulsive seizure frequency in Dravet syndrome: results of a multi-center, randomized, controlled trial (GWPCARE1) (CT.001) (2017) (3)
- Genetic convergence of developmental and epileptic encephalopathies and intellectual disability (2021) (3)
- Clinical Research Independent Occurrence of the CHRNA4 Ser248Phe Mutation in a Norwegian Family with Nocturnal Frontal Lobe Epilepsy (2000) (3)
- Genome-wide association study of febrile seizures identifies seven new loci implicating fever response and neuronal excitability genes (2020) (3)
- The role of common genetic variation in presumed monogenic epilepsies (2022) (3)
- Solving the Molecular Basis of the Developmental and Epileptic Encephalopathies: Are We there Yet? (2021) (2)
- Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services. (2022) (2)
- Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting (2022) (2)
- Helping your older patients to keep eating (2000) (2)
- Erratum to: New Genes for Focal Epilepsies with Speech and Language Disorders (2015) (2)
- A randomized, double‐blind trial of triheptanoin for drug‐resistant epilepsy in glucose transporter 1 deficiency syndrome (2022) (2)
- Improving Specificity of Cerebrospinal Fluid Liquid Biopsy for Genetic Testing (2021) (2)
- Looking to the Future: Speech, Language, and Academic Outcomes in an Adolescent with Childhood Apraxia of Speech (2019) (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)
- Respiratory syncytial virus epidemic during the COVID‐19 pandemic (2022) (2)
- Infantile‐onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype (2021) (2)
- Atypical development of Broca's area in a large family with inherited stuttering. (2021) (2)
- Title ILAE Official Report : A practical clinical definition of epilepsy Permalink (2014) (2)
- receptors is a susceptibility locus for Generalised Epilepsies (2004) (2)
- Author response: SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy (2020) (2)
- Impaired Color Recognition in HCN1 Epilepsy: A Single Case Report (2022) (2)
- Heterogeneous nuclear ribonucleoprotein U (HNRNPU) safeguards the developing mouse cortex (2022) (2)
- Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy (2022) (2)
- Focal Epilepsy in Children With Tuberous Sclerosis Complex: Does Vigabatrin Control Focal Seizures? (2022) (2)
- Protocol for a single patient therapy plan: A randomised, double‐blind, placebo‐controlled N‐of‐1 trial to assess the efficacy of cannabidiol in patients with intractable epilepsy (2020) (2)
- PIGN encephalopathy: Characterizing the epileptology (2022) (2)
- Cutting edge approaches to detecting brain mosaicism associated with common focal epilepsies: implications for diagnosis and potential therapies (2021) (2)
- Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions. (2022) (2)
- Tolerability and efficacy of adjunctive lacosamide in children and adolescents with focal seizures in context of presence or absence of sodium-channel blocking AEDs: Post-hoc analysis of a randomized, double-blind, placebo-controlled trial (P5.260) (2018) (2)
- Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development (2022) (2)
- Identification of a recurrent mosaic KRAS variant in brain tissue from an individual with nevus sebaceous syndrome (2021) (2)
- Why should a neurologist worry about climate change? (2019) (2)
- 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)
- Does variation in NIPA2 contribute to genetic generalized epilepsy? (2014) (1)
- Human nocturnal frontal lobe epilepsy : pharmocogenomic profiles of pathogenic nAChR β-subunit mutations outside the ion channel pore (2008) (1)
- Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5 (2022) (1)
- Phospholipase C Beta 1 (PLCB1) Deficiency is associated with Early Onset Epileptic Encephalopathy (2010) (1)
- Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome (2022) (1)
- Genes4Epilepsy: an epilepsy gene resource. (2023) (1)
- GRIN2B Encephalopathy: Novel Findings (2017) (1)
- Enhanced Sensitivity to Angry Voices in People with Features of the Broader Autism Phenotype (2018) (1)
- Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation (2022) (1)
- Somatic Ras/Raf/MAPK Variants Enriched in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy (2022) (1)
- SETBP1 variants outside the degron disrupt DNA-binding and transcription independent of protein abundance to cause a heterogeneous neurodevelopmental disorder (2022) (1)
- Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice (2022) (1)
- De Novo KCNA2 Mutations Cause Hereditary Spastic Paraplegia Reply (2017) (1)
- O019 Gait and function in Dravet syndrome (2008) (1)
- Seizure dependent language lateralization demonstrated using fMRI (2003) (1)
- Rates of Status Epilepticus and Sudden Unexplained Death in Epilepsy in People With Genetic Developmental and Epileptic Encephalopathies (2023) (1)
- Unexpected diagnosis of myotonic dystrophy type 2 repeat expansion by genome sequencing (2022) (1)
- A family study implicates GBE1 in the etiology of autism spectrum disorder (2021) (1)
- Is a microRNA‐328 binding site in PAX6 associated with Rolandic epilepsy? (2017) (1)
- Loss-of-function variants in the cardiac Kv11.1 channel as a genetic biomarker for SUDEP (2021) (1)
- Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals. (2021) (1)
- COGNITIVE DYSFUNCTION AND THE DISTRIBUTION OF SPIKE ACTIVITY IN BECTS (2006) (1)
- IN36-WE-02 Epilepsy genetics (2009) (0)
- VACCINE ENCEPHALOPATHIES AND DRAVET SYNDROME: PRELIMINARY DATA FROM THE VACENC STUDY (2009) (0)
- Vaccination and Dravet syndrome Reply (2010) (0)
- Reply to Gan-Or and colleagues and Manole and colleagues (2016) (0)
- (CBD) Significantly Reduces Convulsive Seizure Frequency in Dravet Syndrome: Results of a Dose-Ranging, Multicentre, Randomised, Double-Blind, Placebo-Controlled Trial (2019) (0)
- Epidemiology of Developmental and Epileptic Encephalopathy and of Intellectual Disability and Epilepsy in Children (2022) (0)
- GENETICS | Clinical Genetics of Epilepsy (2009) (0)
- PIK-ing the right gene for polymicrogyria (2015) (0)
- Anatomo-electro-clinical correlations with video sequences Multifocal epilepsy : the role of palliative resection-intractable frontal and occipital lobe epilepsy secondary to radiotherapy for acute lymphoblastic leukaemia (2008) (0)
- Severe infantile multi-focal epilepsy: A new sodium channel phenotype (2006) (0)
- Repeat Expansion Disorders Enriched In An Australian And New Zealand Epi25 Year 1 Epilepsy Cohort (2019) (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)
- Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability. (2022) (0)
- Is a History of Seizures an Important Risk Factor for Sudden Cardiac Death in Young Athletes? (2023) (0)
- Differential diagnosis of familial adult myoclonic epilepsy. (2023) (0)
- GEFS plus syndrome in a large Gypsy/Roma family (2011) (0)
- Mutations in DEPDC5 : A major cause of familial focal epilepsy (2013) (0)
- Increased cholinergic mediated dopamine release in patients with autosomal dominant nocturnal frontal lobe epilepsy (2007) (0)
- Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy. (2023) (0)
- Effect of ZX008 (Fenfluramine HCl Oral Solution) on Total Seizures in Dravet Syndrome (2019) (0)
- UNC13B and focal epilepsy. (2022) (0)
- The fascinating phenotypic spectrum of SCN1A gain-of-function epilepsies. (2023) (0)
- Response to sequential treatment with prednisolone and vigabatrin in infantile spasms (2022) (0)
- Recent molecular insights into the human idiopathic epilepsies (0)
- Complications of Influenza A or B Virus Infection in Individuals With SCN1A-Positive Dravet Syndrome (2022) (0)
- THE KETOGENIC DIET IS EFFECTIVE FOR REFRACTORY EPILEPSY DUE TO ACQUIRED STRUCTURAL EPILEPTIC ENCEPHALOPATHY (2013) (0)
- Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data (2017) (0)
- Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy (2023) (0)
- Comment (2006) (0)
- Does long‐term phenytoin have a place in Dravet syndrome? (2022) (0)
- Lightning progress in child neurology in the past 20 years (2022) (0)
- Identifying Neurobiological Markers of the Broader Autism Phenotype (2013) (0)
- Severe cognitive impairment and early-onset epilepsy in six patients with the de novo p.Glu590Lys variant of CUX2 (2017) (0)
- Reply (2005) (0)
- The Australian Academy of Health and Medical Sciences: an authoritative, independent voice in the Australian landscape (2021) (0)
- 24 – Genetic Epilepsies (2007) (0)
- Spectrum Of Epileptic Syndromes In Severe Epilepsies Of Infancy: A Population-Based Study (2019) (0)
- PCDH19 Girls Clustering Epilepsy Carries Significant Risk of Psychotic Disorder after Childhood (2018) (0)
- Absence Seizures During Sleep: Who Would Have Thunk It? (2012) (0)
- Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases (2017) (0)
- Recognition and Epileptology of Protracted CLN3 Disease. (2023) (0)
- Infantile Spasms of Unknown Etiology: Phenotypic Features of a Large Cohort (S25.001) (2013) (0)
- GENETIC ADVANCES AND DISSECTION OF THE GENERALIZED EPILEPSIES (2006) (0)
- Applying Genetic Discoveries to the Treatment of PD and Epilepsy (2015) (0)
- Response to the numbering of seizure types (2017) (0)
- Molecular epidemiology of monogenic epilepsies answers key clinical questions. (2019) (0)
- Migrating partial seizures of infancy: delineation of the clinical and genetic features in a national patient cohort (2014) (0)
- Generalised epilepsy with febrile seizures plus: Mutation of the sodium channel subunit SCN1B and evidence for a founder effect. (2000) (0)
- Generalized epilepsy with febrile seizures plus and classical idiopathic generalized epilepsy (2010) (0)
- Cholinergic-mediated growth hormone and prolactin release is impaired in autosomal dominant nocturnal frontal lobe epilepsy (2006) (0)
- Methodes de diagnostic et de traitement de l'epilepsie (2004) (0)
- Mutations in DEPDC5 (2013) (0)
- Title : In response to ‘ Volume loss and altered neuronal composition in the brainstem reticular zone may not cause sudden unexpected death in epilepsy ’ (2020) (0)
- Letter to the editor (2006) (0)
- Mosaicism for a missense SCN1A mutation and borderline Dravet syndrome in a Roma/Gypsy family (2010) (0)
- Risk Factors for Early Mortality in SCN8A Related Epilepsy (2018) (0)
- A 12-Year Observational Study of Stiripentol Efficacy and Safety in Dravet Syndrome (2018) (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)
- CHD2 mutations produce an early childhood encephalopathy with prominent photosensitive seizures (2014) (0)
- Mosaic variants detectable in blood extend the clinico-genetic spectrum of GLI3-related Hypothalamic Hamartoma (2023) (0)
- Role of azathioprine in Rasmussen's syndrome (2005) (0)
- Childhood Absence Epilepsy As a Manifestation of GLUT1 Deficiency Reply (2010) (0)
- ELO01 Phenotypic characterisation of a large family with benign familial neonatal seizures associated with an exon duplication of the KCNQ2 gene (2007) (0)
- EpilepsyGenetics RevolutionizesClinical Practice (2014) (0)
- Concurrent Free Paper Sessions 2 (2008) (0)
- ANA Podcasts & Webinars: Genetics of Epilepsy (2023) (0)
- De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder. (2022) (0)
- SYNGAP1 Developmental and Epileptic Encephalopathy: Delineating the Phenotypic Spectrum (2018) (0)
- Electrophysiological investigation of a GABA(A) receptor subunit mutation found in humans with epilepsy (2001) (0)
- Contents page + Editorial Board (2006) (0)
- Invited comments on the Shostak and Ottman review. (2006) (0)
- A systematic review and meta-analysis of 271 PCDH19-variant individuals identi fi es psychiatric comorbidities, and association of seizure onset and disease severity (2019) (0)
- 35. Peripheral nerve excitability testing shows distinctive ion channel dysfunction in patients with KCNQ2 mutations and epilepsy (2010) (0)
- Retinal Dysfunction in a Mouse Model of HCN1 Genetic Epilepsy (2023) (0)
- Methods for diagnosis and treatment of epilepsy (2004) (0)
- Epidemiology of Treated Epilepsy in New Zealand Children (2021) (0)
- Phenotyping the progressive gait deterioration in Dravet syndrome (2007) (0)
- Reply (2017) (0)
- 631: Cognitive dysfunction and the distribution of spike activity in BECTS (2007) (0)
- The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome (2022) (0)
- Quantitative analysis of phenotypic elements augments traditional electroclinical classification of common familial epilepsies (2019) (0)
- the Victorian Collaborative Autism Study: A family and community study of the genetics of autism spectrum disorder (2016) (0)
- Corrigendum to “Clinical and genetic analysis of a family with two rare reflex epilepsies” [Seizure – Eur. J. Epilepsy 29 (2015) 90–96] (2015) (0)
- Cultural relevance of the global impact of Dravet Syndrome in Australia, Italy, the US and UK (2017) (0)
- Headache in childhood and adolescence (2000) (0)
- Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development (2023) (0)
- Faculty Opinions recommendation of A novel locus for generalized epilepsy with febrile seizures plus in French families. (2009) (0)
- Benign familial neonatal-infantile seizures: The mutational and phenotypic spectrum (2007) (0)
- The epileptology of Wiedemann-Steiner syndrome: Electroclinical findings in five patients with KMT2A pathogenic variants. (2023) (0)
- Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia (2019) (0)
- A Twin Study of Genetic Influences on Epilepsy Outcome (2003) (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)
- Vaccination and Dravet syndrome – Authors' reply (2010) (0)
- 009 Axonal excitability properties in dravet’s syndrome reflect effect of loss of sodium channels (2019) (0)
- Individual fixel-based white matter abnormalities in the epilepsies (2023) (0)
- In response to ‘Volume loss and altered neuronal composition in the brainstem reticular zone may not cause sudden unexpected death in epilepsy’ (2020) (0)
- Abstracts for the 37th Human Genetics Society of Australasia Annual Scientific Meeting Queenstown, New Zealand: August 4–7, 2013 (2013) (0)
- Indications and prescribing patterns of antiseizure medications in children in New Zealand. (2023) (0)
- Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare. (2023) (0)
- Reply (2010) (0)
- Corrigendum to “Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome” [Epilepsy Res. 140 (2018) 166–170] (2018) (0)
- Reply: Genetic influence on rolandic epilepsy (2005) (0)
- A Primate-Specific Isoform of PLEKHG 6 Regulates Neurogenesis and Neuronal Migration Graphical (2018) (0)
- WWOX Developmental and Epileptic Encephalopathy (WWOX-DEE): understanding the epileptology and the mortality risk. (2023) (0)
- Inherited epilepsy syndromes in multiplex families (1988) (0)
- Enhanced Sensitivity to Angry Voices in People with Features of the Broader Autism Phenotype (2018) (0)
- How gene discovery has transformed management of people with epilepsy. (2020) (0)
- The Causes of Epilepsy: Genetic epilepsy with febrile seizures plus (2011) (0)
- Post-Vaccination Seizures in Children With Dravet Syndrome: Can They Be Prevented? (2022) (0)
- AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders (2019) (0)
- New seizure names - What happened to the “Complex partial seizure”? (2017) (0)
- The Key to FAME: Intronic Repeat Expansions Cause Human Epilepsies (2018) (0)
- IDENTIFICATION OF A NOVEL GENE IN A FAMILY WITH SEVERE INFANTILE-ONSET EPILEPSY (2012) (0)
- A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure. (2022) (0)
- Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2 (2016) (0)
- Impairment of cholinergic-mediated growth hormone and prolactin release in autosomal dominant nocturnal frontal lobe epilepsy (2007) (0)
- Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants (2021) (0)
- Mutations in Depdc5 Are a Major Cause of Lesional and Non-Lesional Focal Epilepsy (2014) (0)
- Heart Rate Variability in Epilepsy: A Potential SUDEP Risk Biomarker (P6.263) (2018) (0)
- ANA Investigates: Genetics of Epilepsy. (2022) (0)
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