Targeted genomic sequencing identifies <i>PRRT2</i> mutations as a cause of paroxysmal kinesigenic choreoathetosis

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

doi:10.1136/jmedgenet-2011-100635

Public

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

Published in Journal of Medical Genetics • Nov 30, 2011

Authors:

Jingyun Li

Xilin Zhu

Xin Wang

Abstract

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)...

Subject

Genetics

Haploinsufficiency

Sanger sequencing

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