Publications:

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Functional study and pathogenicity classification of PRRT2 missense variants in PRRT2-related disorders.

Cns Neuroscience & Therapeutics

Zhao, Shao-Yun SY; Li, Li-Xi LX; Chen, Yu-Lan YL; Chen, Yi-Jun YJ; Liu, Gong-Lu GL; Dong, Hai-Lin HL; Chen, Dian-Fu DF; Li, Hong-Fu HF; Wu, Zhi-Ying ZY

Publication Date: 2020-01

Variant appearance in text: ICCA: 859G>A

PubMed Link: 31124310

Variant Present in the following documents:

• Main text
• CNS-26-39.pdf

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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: A287T

PubMed Link: 30713971

Variant Present in the following documents:

• Main text

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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: A287T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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PRRT2 Mutant Leads to Dysfunction of Glutamate Signaling.

International Journal Of Molecular Sciences

Li, Ming M; Niu, Fenghe F; Zhu, Xilin X; Wu, Xiaopan X; Shen, Ning N; Peng, Xiaozhong X; Liu, Ying Y

Publication Date: 2015-04-23

Variant appearance in text: PRRT2: 859G>A

PubMed Link: 25915028

Variant Present in the following documents:

• Main text
• ijms-16-09134-s001.pdf
• ijms-16-09134.pdf

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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: 859G>A

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:

PubMed Link: 22131361

Variant Present in the following documents:

• Main text
• jmedgenet-2011-100635.pdf

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