Article
Genetic analysis of PHOX2B in sudden unexpected death in epilepsy cases.
Neurology - 9 Sept 2014
Bagnall Richard D, Crompton Douglas E, Cutmore Carina, Regan Brigid M, Berkovic Samuel F, Scheffer Ingrid E, Semsarian Christopher
Abstract excerpt
OBJECTIVE: To determine the contribution of sequence variations in PHOX2B to sudden unexpected death in epilepsy (SUDEP). METHODS: Patients who died of SUDEP were identified in 2 major Australian cohorts, the Epilepsy Genetics research program in Melbourne and postmortem cases at the Department of Forensic Medicine in Sydney. Coding exons of the PHOX2B gene were sequenced and a fluorescent sizing assay was used...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.