Genetic variants in incident SUDEP cases from a community-based prospective cohort with epilepsy.
Yan Ge, Ding Ding, Guoxing Zhu, Patrick Kwan, Wenzhi Wang, Zhen Hong, Josemir W Sander
J Neurol Neurosurg Psychiatry | Published : 2020
OBJECTIVE: Sudden unexpected death in epilepsy (SUDEP) is a leading cause of epilepsy-related mortality in young adults. It has been suggested that SUDEP may kill over 20 000 people with epilepsy in China yearly. The aetiology of SUDEP is unclear. Little is known about candidate genes for SUDEP in people of Chinese origin as most studies have ascertained this in Caucasians. No candidate genes for SUDEP in Chinese people have been identified. METHODS: We performed whole exome sequencing (WES) in DNA samples collected from five incident cases of SUDEP identified in a large epilepsy cohort in rural China. We filtered rare variants identified from these cases as well as screened for SUDEP, epile..View full abstract