학술논문
From focal epilepsy to Dravet syndrome – Heterogeneity of the phenotype due to SCN1Amutations of the p.Arg1596 amino acid residue in the Nav1.1 subunit
Document Type
Article
Author
Source
Neurologia I Neurochirurgia Polska / Polish Journal of Neurology and Neurosurgery; July-August 2015, Vol. 49 Issue: 4 p258-266, 9p
Subject
Language
ISSN
00283843
Abstract
The aim of this study was to analyze the intra-/interfamilial phenotypic heterogeneity due to variants at the highly evolutionary conservative p.Arg1596 residue in the Nav1.1 subunit.