Article
Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy.
Human genomics - 7 Dec 2020
Zhang Linlin, Gao Jinshuang, Liu Hailiang, Tian Yuan, Zhang Xiaoli, Lei Wei, Li Ying, Guo Yaqing, Yu Haiyang, Yuan Erfeng, Liang Lisi, Cui Shihong, Zhang Xiaoan
Abstract excerpt
BACKGROUND: Epilepsy is a group of neurological disorders characterized by recurrent epileptic seizures. Epilepsy is affected by many factors, approximately 20-30% of cases are caused by acquired conditions, but in the remaining cases, genetic factors play an important role. Early establishment of a specific diagnosis is important to treat and manage this disease. METHODS: In this study, we have recruited 43...
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