<i>GABRA1</i> and <i>STXBP1</i> : Novel genetic causes of Dravet syndrome

2014256 citationsJournal Article

Authors

Gemma L. Carvill · VIB-UAntwerp Center for Molecular Neurology

Sarah Weckhuysen · VIB-UAntwerp Center for Molecular Neurology

Jacinta M. McMahon · VIB-UAntwerp Center for Molecular Neurology

Corinna Hartmann · VIB-UAntwerp Center for Molecular Neurology

Rikke S. Møller · VIB-UAntwerp Center for Molecular Neurology

Helle Hjalgrim · VIB-UAntwerp Center for Molecular Neurology

Abstract

We show that GABRA1 and STXBP1 make a significant contribution to Dravet syndrome after SCN1A abnormalities have been excluded. Our results have important implications for diagnostic testing, clinical management, and genetic counseling of patients with this devastating disorder and their families.

Topics & Keywords

Genomics and Rare Diseases Genomic variations and chromosomal abnormalities Genetics and Neurodevelopmental Disorders

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Neurology

Volume 82, Issue 14, pp. 1245-1253

DOI: 10.1212/wnl.0000000000000291

Field-Weighted Citation Impact: 22.87