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
SCN1A gain of function effects in Dravet syndrome: Insights into clinical phenotypes and therapeutic implications.
Kobayashi Takahashi Y et al.
Epilepsia Open, 2025
Cardiac arrhythmia and epilepsy genetic variants in sudden unexpected death in epilepsy.
Aschner A et al.
Frontiers in 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
Persistent sodium currents in SCN1A developmental and degenerative epileptic dyskinetic encephalopathy.
Gorman KM et al.
Brain Communications, 2021
34755109 (PubMed )
Supplement: fcab235_supplementary_data.zip › Original_Submission.pdf
SCN1A variants from bench to bedside-improved clinical prediction from functional characterization.
Brunklaus A et al.
Human Mutation, 2020
De novo SCN1A, SCN8A, and CLCN2 mutations in childhood absence epilepsy.
Xie H et al.
Epilepsy Research, 2019
Double somatic mosaicism in a child with Dravet syndrome.
Muir AM et al.
Neurology. 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
31001185 (PubMed )
Supplement: Table_1.XLSX › SCN1A_Mutations_in_DS
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 mutation database: updating information and analysis of the relationships among genotype, functional alteration, and phenotype.
Meng H et al.
Human Mutation, 2015
Sodium channels and the neurobiology of epilepsy.
Oliva M et al.
Epilepsia, 2012
22905747 (PubMed )
Supplement: supplement_1.doc
Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: associated with loss of function of Na(v) 1.1.
Liao WP et al.
Epilepsia, 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
Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures.
Rhodes TH et al.
The Journal of Physiology, 2005
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
Persistent sodium current and its role in epilepsy.
Stafstrom CE
Epilepsy Currents, 0
(What to do) when epilepsy gene mutations stop making sense.
Cooper EC
Epilepsy Currents, 0
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