Associated Papers
Fenfluramine in SCN1A-related GEFS+: A multicenter observational study on efficacy, EEG improvement, and tolerability.
Dell'Isola GB et al.
Epilepsia Open, 2026
Reply: Age at onset of genetic disease and genetic dependent stage: evidence from cases with SCN1A variants.
Brunklaus A
Brain : a Journal of Neurology, 2025
Age at onset of genetic disease and genetic dependent stage: evidence from cases with SCN1A variants.
Luo S et al.
Brain : a Journal of Neurology, 2025
Predictors of genetic diagnosis in individuals with developmental and epileptic encephalopathies.
Luiza Benevides M et al.
Epilepsy & Behavior : E&b, 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
Somatic mutations in facial skin from countries of contrasting skin cancer risk.
King C et al.
Nature Genetics, 2023
The Role of Focal Epilepsy Features in Defining SCN1A Mutation-positive Dravet Syndrome as Generalized and Focal Epilepsy.
Ko YJ et al.
Journal of Epilepsy Research, 2021
Critical Role of E1623 Residue in S3-S4 Loop of Nav1.1 Channel and Correlation Between Nature of Substitution and Functional Alteration.
Su T et al.
Frontiers in Molecular Neuroscience, 2021
De novo truncating mutation in SCN1A as a cause of febrile seizures plus (FS+).
Jaimes A et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2020
Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.
Gonsales MC et al.
Frontiers in Neurology, 2019
The SCN1A mutation database: updating information and analysis of the relationships among genotype, functional alteration, and phenotype.
Meng H et al.
Human Mutation, 2015
Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures.
Shi YW et al.
Genes, Brain, and Behavior, 2012
Severe myoclonic epilepsy of infancy (Dravet syndrome): Clinical and genetic features of nine Turkish patients.
Ozmen M et al.
Annals of Indian Academy of Neurology, 2011
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.
Depienne C et al.
Journal of Medical Genetics, 2010
The SCN1A variant database: a novel research and diagnostic tool.
Claes LR et al.
Human Mutation, 2009
Case Series of Early SCN1A-Related Developmental and Epileptic Encephalopathies.
Gowda VK et al.
Journal of Pediatric Neurosciences, 0