Novel De Novo Mutation of a Conserved SCN1A Amino-Acid Residue (R1596)
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Developmental Neuroscience,Neurology,Pediatrics, Perinatology, and Child Health
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1. Functional Characteristics of the Nav1.1 p.Arg1596Cys Mutation Associated with Varying Severity of Epilepsy Phenotypes;International Journal of Molecular Sciences;2024-02-01
2. A Study among the Genotype, Functional Alternations, and Phenotype of 9 SCN1A Mutations in Epilepsy Patients;Scientific Reports;2020-06-24
3. From focal epilepsy to Dravet syndrome – Heterogeneity of the phenotype due to SCN1A mutations of the p.Arg1596 amino acid residue in the Nav1.1 subunit;Neurologia i Neurochirurgia Polska;2015-07
4. TheSCN1Avariant database: a novel research and diagnostic tool;Human Mutation;2009-10
5. Development of individualized medicine for epilepsy based on genetic information;Expert Review of Clinical Pharmacology;2008-09
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