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
The SCN1A gene variants and epileptic encephalopathies.
Parihar R et al.
Journal of Human Genetics, 2013
Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene.
Guerrini R et al.
Epilepsia, 2010
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.
Depienne C et al.
Journal of Medical Genetics, 2010
Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family.
Azmanov DN et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2010
Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies.
Orrico A et al.
Clinical Genetics, 2009
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.
Nabbout R et al.
Neurology, 2003
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