Associated Papers
To the editors: SCN1A gain-of-function effects in Dravet syndrome: Insights into clinical phenotypes and therapeutic implications.
Müller-Wöhrstein P et al.
Epilepsia Open, 2025
The utility of CNV analysis in identifying the molecular etiology of pediatric epilepsy patients.
Zhang S et al.
Pediatric Research, 2025
SCN1A gain of function effects in Dravet syndrome: Insights into clinical phenotypes and therapeutic implications.
Kobayashi Takahashi Y et al.
Epilepsia Open, 2025
Decreased homovanillic acid and 5-hydroxyindoleacetic acid levels in the cerebrospinal fluid of patients with Dravet syndrome with parkinsonism.
Sugiyama R et al.
Epilepsia Open, 2025
SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signature.
LaFlamme CW et al.
Epilepsia, 2025
Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.
Gallagher D et al.
Epilepsia, 2024
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Developmental and epileptic encephalopathy: Personal utility of a genetic diagnosis for families.
Jeffrey JS et al.
Epilepsia Open, 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
Genetic and phenotypic characteristics of SCN1A-related epilepsy in Chinese children.
Fang ZX et al.
Neuroreport, 2019
Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy.
Balciuniene J et al.
Jama Network Open, 2019
Data on mutations and Clinical features in SCN1A or SCN2A gene.
Kong Y et al.
Data in Brief, 2019
Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.
Gonsales MC et al.
Frontiers in Neurology, 2019
Dravet syndrome in South African infants: Tools for an early diagnosis.
Esterhuizen AI et al.
Seizure, 2018
Novel and de novo mutations in pediatric refractory epilepsy.
Liu J et al.
Molecular Brain, 2018
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
Pitfalls in genetic testing: the story of missed SCN1A mutations.
Djémié T et al.
Molecular Genetics & Genomic Medicine, 2016
Supraventricular Tachycardia During Status Epilepticus in Dravet Syndrome: A Link Between Brain and Heart?
Daverio M et al.
Pediatric Neurology, 2016
Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome.
Xu X et al.
Human Mutation, 2015
The SCN1A mutation database: updating information and analysis of the relationships among genotype, functional alteration, and phenotype.
Meng H et al.
Human Mutation, 2015
[Complex febrile Seizures or Dravet syndrome?: Description of 3 case reports].
Hernández M et al.
Revista Chilena De Pediatria, 2014
Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations.
Xu X et al.
Brain & Development, 2014
Variability of EEG-fMRI findings in patients with SCN1A-positive Dravet syndrome.
Moehring J et al.
Epilepsia, 2013
Early clinical features in Dravet syndrome patients with and without SCN1A mutations.
Petrelli C et al.
Epilepsy Research, 2012
Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.
Sun H et al.
Journal of Human Genetics, 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