Associated Papers
Transforming refractory epilepsy management: Trio-WES for enhanced genetic diagnosis and prognosis in children.
Chen Y et al.
Seizure, 2025
Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.
Menezes LFS et al.
Frontiers in Pharmacology, 2020
Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.
Gonsales MC et al.
Frontiers in Neurology, 2019
31001185 (PubMed )
Supplement: Table_1.XLSX › SCN1A_Mutations_in_DS
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
28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1
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
A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.
Singh NA et al.
Plos 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
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