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
Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.
Guerrini R et al.
Physiological Reviews, 2023
Drosophila melanogaster as a versatile model organism to study genetic epilepsies: An overview.
Fischer FP et al.
Frontiers in Molecular Neuroscience, 2023
Investigating Developmental and Epileptic Encephalopathy Using Drosophila melanogaster.
Takai A et al.
International Journal of Molecular Sciences, 2020
Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.
Gonsales MC et al.
Frontiers in Neurology, 2019
Preclinical Animal Models for Dravet Syndrome: Seizure Phenotypes, Comorbidities and Drug Screening.
Griffin A et al.
Frontiers in Pharmacology, 2018
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
INTERNEURONOPATHIES AND THEIR ROLE IN EARLY LIFE EPILEPSIES AND NEURODEVELOPMENTAL DISORDERS.
Katsarou AM et al.
Epilepsia Open, 2017
Model systems for studying cellular mechanisms of SCN1A-related epilepsy.
Schutte SS et al.
Journal of Neurophysiology, 2016
Neonatal and Infantile Epilepsy: Acquired and Genetic Models.
Galanopoulou AS et al.
Cold Spring Harbor Perspectives in Medicine, 2015
Drosophila sodium channel mutations: Contributions to seizure-susceptibility.
Kroll JR et al.
Experimental Neurology, 2015
Pathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: A view from preclinical studies.
Galanopoulou AS et al.
Neurobiology of Disease, 2015
Knock-in model of Dravet syndrome reveals a constitutive and conditional reduction in sodium current.
Schutte RJ et al.
Journal of Neurophysiology, 2014
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
Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy.
Kearney JA et al.
Pediatric Neurology, 2006
Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity.
Kanai K et al.
Neurology, 2004
Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.
Fujiwara T et al.
Brain : a Journal of Neurology, 2003
Lithium-Responsive Seizure-Like Hyperexcitability Is Caused by a Mutation in the Drosophila Voltage-Gated Sodium Channel Gene paralytic.
Kaas GA et al.
Eneuro, 0
Seizure Phenotype and Underlying Cellular Defects in Drosophila Knock-In Models of DS (R1648C) and GEFS+ (R1648H) SCN1A Epilepsy.
Roemmich AJ et al.
Eneuro, 0