Associated Papers
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
A novel SCN1A mutation identified in a Chinese family with familial hemiplegic migraine: A case report.
Zhang Y et al.
Cephalalgia : an International Journal of Headache, 2017
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 gene variants and epileptic encephalopathies.
Parihar R et al.
Journal of Human Genetics, 2013
Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy.
Freilich ER et al.
Archives of Neurology, 2011
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
Genes and loci involved in febrile seizures and related epilepsy syndromes.
Audenaert D et al.
Human Mutation, 2006
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.
Nabbout R et al.
Neurology, 2003
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