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Article

Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis.

Journal of medical genetics - 1 Feb 2012

Li Jingyun, Zhu Xilin, Wang Xin, Sun Wei, Feng Bing, Du Te, Sun Bei, Niu Fenghe, Wei Hua, Wu Xiaopan, Dong Lei, Li Liping, Cai Xingqiu, Wang Yuping, Liu Ying

Abstract excerpt

BACKGROUND: Paroxysmal kinesigenic choreoathetosis (PKC) is characterised by recurrent and brief attacks of involuntary movement, inherited as an autosomal dominant trait with incomplete penetrance. A PKC locus has been previously mapped to the pericentromeric region of chromosome 16 (16p11.2-q12.1), but the causative gene remains unidentified. METHODS/RESULTS: Deep sequencing of this 30 Mb region enriched with...

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Identifiers

PMID: 22131361
DOI: 10.1136/jmedgenet-2011-100635
PMCID: PMC3261727

Genes

PRRT2

Variants

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