Article
Novel loss-of-function PRRT2 mutation causes paroxysmal kinesigenic dyskinesia in a Han Chinese family.
BMC neurology - 16 Jul 2014
Ji Zhisong, Su Quanxi, Hu Lingling, Yang Qi, Liu Cuixian, Xiong Jun, Xiong Fu
Abstract excerpt
BACKGROUND: Mutations in proline-rich transmembrane protein 2 (PRRT2) are a cause of paroxysmal kinesigenic dyskinesia (PKD). In this study, we investigated the PRRT2 gene mutation in a Chinese Han family with PKD and study the pathogenesis of the mutation with PRRT2 gene. METHODS: Peripheral venous blood was taken from the family members. Sanger sequencing was used for novel mutation sequencing. For the...
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