Associated Papers
Targeted gene panel testing in pediatric epilepsy: Diagnostic outcomes and expanding genetic insights.
Sanri A et al.
Brain & Development, 2026
Nationwide Study of Pediatric Drug-Resistant Epilepsy in Estonia: Lower Incidence and Insights into Etiology.
Lilles S et al.
Pediatric Reports, 2026
SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signature.
LaFlamme CW et al.
Epilepsia, 2025
Characteristic spatial and frequency distribution of mutations in SCN1A.
Zhang M et al.
Acta Epileptologica, 2024
SCN1A-Characterization of the Gene's Variants in the Polish Cohort of Patients with Dravet Syndrome: One Center Experience.
Stawicka E et al.
Current Issues in Molecular Biology, 2024
Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.
Gallagher D et al.
Epilepsia, 2024
Common genes and recurrent causative variants in 957 Asian patients with pediatric epilepsy.
Kim SH et al.
Epilepsia, 2024
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.
Martins Custodio H et al.
Brain : a Journal of Neurology, 2023
Core Features Differentiate Dravet Syndrome from Febrile Seizures.
Nordli DR et al.
The Journal of Pediatrics, 2023
Predicting functional effects of ion channel variants using new phenotypic machine learning methods.
Boßelmann CM et al.
Plos Computational Biology, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
Parental mosaicism in de novo neurodevelopmental diseases.
Shu L et al.
American Journal of Medical Genetics. Part A, 2021
Biological concepts in human sodium channel epilepsies and their relevance in clinical practice.
Brunklaus A et al.
Epilepsia, 2020
SCN1A variants from bench to bedside-improved clinical prediction from functional characterization.
Brunklaus A et al.
Human Mutation, 2020
Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.
Menezes LFS et al.
Frontiers in Pharmacology, 2020
SCN1A mutation spectrum in a cohort of Bulgarian patients with GEFS+ phenotype.
Peycheva V et al.
The Turkish Journal of Pediatrics, 2020
Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.
Gonsales MC et al.
Frontiers in Neurology, 2019
Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.
Fernández-Marmiesse A et al.
Frontiers in Neuroscience, 2019
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
The SCN1A mutation database: updating information and analysis of the relationships among genotype, functional alteration, and phenotype.
Meng H et al.
Human Mutation, 2015
Electrophysiological Differences between the Same Pore Region Mutation in SCN1A and SCN3A.
Chen YJ et al.
Molecular Neurobiology, 2015
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.
Walsh R et al.
Journal of Medical Genetics, 2014
Prevalence of SCN1A-related dravet syndrome among children reported with seizures following vaccination: a population-based ten-year cohort study.
Verbeek NE et al.
Plos One, 2013
Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.
Volkers L et al.
The European Journal of Neuroscience, 2011
Adults with a history of possible Dravet syndrome: an illustration of the importance of analysis of the SCN1A gene.
Verbeek NE et al.
Epilepsia, 2011
Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: associated with loss of function of Na(v) 1.1.
Liao WP et al.
Epilepsia, 2010
De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.
Heron SE et al.
Journal of Medical Genetics, 2010
The SCN1A variant database: a novel research and diagnostic tool.
Claes LR et al.
Human Mutation, 2009
Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity.
Kanai K et al.
Journal of Medical Genetics, 2009
De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study.
Berkovic SF et al.
The Lancet. Neurology, 2006