Article
Novel and de novo mutation of PCDH19 in Girls Clustering Epilepsy.
Brain and behavior - 1 Dec 2019
Yang Li, Liu Jing, Su Quanping, Li Yufen, Yang Xiaofan, Xu Liyun, Tong Lili, Li Baomin
Abstract excerpt
BACKGROUND: PCDH19 has become the second most relevant gene in epilepsy after SCN1A. Seizures often provoked by fever. METHODS: We screened 152 children with fever-sensitive epilepsy for gene detection. Their clinical information was followed up. RESULTS: We found eight PCDH19 point mutations (four novel and four reported) and one whole gene deletion in 10 female probands (seven sporadic cases and three family...
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