Associated Papers
Genetic Diversity in Early Infantile Epileptic Encephalopathy: A Three-Year Cohort Study.
Torbati PN et al.
Pediatric Neurology, 2026
Genetic etiology of 283 Chinese individuals with epilepsy using copy number variation sequencing and whole exome sequencing: a single-center cohort study.
Hu J et al.
Bmc Medical Genomics, 2025
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signature.
LaFlamme CW et al.
Epilepsia, 2025
Targeted sequencing identifies risk variants in 202 candidate genes for neurodevelopmental disorders.
Pang N et al.
Gene, 2024
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
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
A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.
Ganesan S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy.
Lee J et al.
Molecular Genetics & Genomic Medicine, 2020
Genetic Diagnosis of Dravet Syndrome Using Next Generation Sequencing-Based Epilepsy Gene Panel Testing.
Lee J et al.
Annals of Clinical and Laboratory Science, 2020
Assessment of parental mosaicism in SCN1A-related epilepsy by single-molecule molecular inversion probes and next-generation sequencing.
de Lange IM et al.
Journal of Medical Genetics, 2019
Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.
Gonsales MC et al.
Frontiers in Neurology, 2019
Genotype and phenotype analysis using an epilepsy-associated gene panel in Chinese pediatric epilepsy patients.
Miao P et al.
Clinical Genetics, 2018
Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations.
Cho MJ et al.
Journal of Clinical Neurology (seoul, Korea), 2018
The SCN1A mutation database: updating information and analysis of the relationships among genotype, functional alteration, and phenotype.
Meng H et al.
Human Mutation, 2015
The SCN1A gene variants and epileptic encephalopathies.
Parihar R et al.
Journal of Human Genetics, 2013
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.
Kodera H et al.
Epilepsia, 2013
Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures.
Shi YW et al.
Genes, Brain, and Behavior, 2012
Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family.
Azmanov DN et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 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
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
Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.
Mancardi MM et al.
Epilepsia, 2006