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: V322Wfs

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: 964delG

PubMed Link: 24370076

Variant Present in the following documents:

• 1471-2377-13-209-S2.xlsx, sheet 1

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

Journal Of Medical Genetics

Li, Jingyun J; Zhu, Xilin X; Wang, Xin X; Sun, Wei W; Feng, Bing B; Du, Te T; Sun, Bei B; Niu, Fenghe F; Wei, Hua H; Wu, Xiaopan X; Dong, Lei L; Li, Liping L; Cai, Xingqiu X; Wang, Yuping Y; Liu, Ying Y

Publication Date: 2012-02

Variant appearance in text: PRRT2: 964delG

PubMed Link: 22131361

Variant Present in the following documents:

• Main text
• jmedgenet-2011-100635.pdf

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