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: W281R

PubMed Link: 30713971

Variant Present in the following documents:

• Main text

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: PRRT2: W281R

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: PRRT2: W281R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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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: W281R

PubMed Link: 22131361

Variant Present in the following documents:

• Main text
• jmedgenet-2011-100635.pdf

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