On the likelihood of SCN1A microdeletions or duplications in Dravet syndrome with missense mutation

Xiuyu Shi; Jiwen Wang; Hirokazu Kurahashi; Atsushi Ishii; Norimichi Higurashi; Sunao Kaneko; Shinichi Hirose

doi:10.1016/j.braindev.2011.11.005

On the likelihood of SCN1A microdeletions or duplications in Dravet syndrome with missense mutation

Brain Dev. 2012 Sep;34(8):617-9. doi: 10.1016/j.braindev.2011.11.005. Epub 2011 Dec 27.

Authors

Xiuyu Shi¹, Jiwen Wang, Hirokazu Kurahashi, Atsushi Ishii, Norimichi Higurashi, Sunao Kaneko, Shinichi Hirose

Affiliation

¹ Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan.

PMID: 22206733
DOI: 10.1016/j.braindev.2011.11.005

Abstract

This study examines whether microdeletions and duplications of the gene encoding α1 subunit of the sodium channel (SCN1A) are underlying causes in Dravet syndrome (DS) with SCN1A missense mutation. Multiple exonic deletions were identified in 8/84 patients without mutation and 0/41 patients with missense mutations. Our findings indicate that while microdeletions are not rare in SCN1A-negative patients, they are not likely to be present simultaneously with other SCN1A mutations.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Epilepsies, Myoclonic / genetics*
Gene Deletion*
Gene Duplication*
Humans
Mutation, Missense*
NAV1.1 Voltage-Gated Sodium Channel / genetics*
Polymerase Chain Reaction

Substances

NAV1.1 Voltage-Gated Sodium Channel
SCN1A protein, human