Associated Papers
Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing.
Sparber P et al.
Brain : a Journal of Neurology, 2024
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
35037686 (PubMed )
Supplement: awac006_Supplementary_Data.pdf
Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions.
Ademuwagun IA et al.
Frontiers in Neurology, 2021
Dravet Variant SCN1A A1783V Impairs Interneuron Firing Predominantly by Altered Channel Activation.
Layer N et al.
Frontiers in Cellular Neuroscience, 2021
A Study among the Genotype, Functional Alternations, and Phenotype of 9 SCN1A Mutations in Epilepsy Patients.
Kluckova D et al.
Scientific Reports, 2020
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
When is a child with status epilepticus likely to have Dravet syndrome?
Le Gal F et al.
Epilepsy Research, 2014
Select a paper to view details