Publications:

A Novel Truncation Mutation of the PRRT2 Gene Resulting in a 16-Amino-Acid Protein Causes Self-inducible Paroxysmal Kinesigenic Dyskinesia.

Movement Disorders Clinical Practice

Kita, Makoto M; Kuwata, Yasuhiro Y; Murase, Nagako N; Akiyama, Yuichi Y; Usui, Takeshi T

Publication Date: 2017

Variant appearance in text: PRRT2: P91Qfs

PubMed Link: 30713971

Variant Present in the following documents:

• Main text

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Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis.

Bmc Neurology

Yang, Xiaoling X; Zhang, Yuehua Y; Xu, Xiaojing X; Wang, Shuang S; Yang, Zhixian Z; Wu, Ye Y; Liu, Xiaoyan X; Wu, Xiru X

Publication Date: 2013-12-26

Variant appearance in text: ICCA: 272delC

PubMed Link: 24370076

Variant Present in the following documents:

• 1471-2377-13-209-S2.xlsx, sheet 1

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PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort.

Plos One

Lee, Yi-Chung YC; Lee, Ming-Jen MJ; Yu, Hsiang-Yu HY; Chen, Chien C; Hsu, Chang-Hung CH; Lin, Kon-Ping KP; Liao, Kwong-Kum KK; Chang, Ming-Hong MH; Liao, Yi-Chu YC; Soong, Bing-Wen BW

Publication Date: 2012

Variant appearance in text: PRRT2: 272delC; P91Qfs*24

PubMed Link: 22870186

Variant Present in the following documents:

• Main text
• pone.0038543.pdf

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