Variable expressivity of a novel mutation in the SCN1A gene leading to an autosomal dominant seizure disorder.

Abstract excerpt

Mutations in the SCN1A gene can cause a variety of dominantly inherited epilepsy syndromes. Severe phenotypes usually result from loss of function mutations, whereas missense mutations cause a milder phenotype by altering the sodium channel activity. We report on a novel missense variant (p.Val1379Leu) in the SCN1A gene segregating in an autosomal dominant pattern in a family exhibiting a variable epilepsy...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Epilepsy
• Share to Genes, Dominant
• Share to Leucine