Article
A PRRT2 variant in a Chinese family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures results in loss of interaction with STX1B.
Epilepsia - 1 Aug 2018
Ma Hongying, Feng Shenglei, Deng Xuejun, Wang Li, Zeng Sheng, Wang Cheng, Ma Xixiang, Sun Hao, Chen Rui, Du Shiyue, Mao Jinglin, Zhang Xianwei, Ma Cong, Jiang Hong, Zhang Luoying, Tang Beisha, Liu Jing Yu
Abstract excerpt
OBJECTIVE: To identify the causative gene of autosomal dominant paroxysmal kinesigenic dyskinesia and benign familial infantile seizures (PKD/BFIS) in a large Chinese family and explore the potential pathogenic mechanism of a PRRT2 (proline-rich transmembrane protein 2) variant. METHODS: Genetic testing was performed via whole exome sequencing. Western blotting and immunofluorescence were used to analyze the...
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