Publications:

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The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine

Chang, Darwin D; Shain, A Hunter AH

Publication Date: 2021-07-16

Variant appearance in text: PRRT2: R266W

PubMed Link: 34272401

Variant Present in the following documents:

• 41525_2021_226_MOESM5_ESM.xlsx, sheet 1

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: PRRT2: 796C>T; Arg266Trp; rs387907128

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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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: PRRT2: 796C>T

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: R266W

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: R266W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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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: 796C>T

PubMed Link: 24370076

Variant Present in the following documents:

• 1471-2377-13-209-S2.xlsx, sheet 1

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The genetics of dystonias.

Advances In Genetics

LeDoux, Mark S MS

Publication Date: 2012

Variant appearance in text: PRRT2: 796C>T

PubMed Link: 22989765

Variant Present in the following documents:

• Main text

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Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia.

Bmc Neurology

Hedera, Peter P; Xiao, Jianfeng J; Puschmann, Andreas A; Momčilović, Dragana D; Wu, Steve W SW; LeDoux, Mark S MS

Publication Date: 2012-09-18

Variant appearance in text: PRRT2: 796C>T

PubMed Link: 22985072

Variant Present in the following documents:

• Main text
• 1471-2377-12-93.pdf

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Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.

Brain : A Journal Of Neurology

Wang, Jun-Ling JL; Cao, Li L; Li, Xun-Hua XH; Hu, Zheng-Mao ZM; Li, Jia-Da JD; Zhang, Jian-Guo JG; Liang, Yu Y; San-A, ; Li, Nan N; Chen, Su-Qin SQ; Guo, Ji-Feng JF; Jiang, Hong H; Shen, Lu L; Zheng, Lan L; Mao, Xiao X; Yan, Wei-Qian WQ; Zhou, Ying Y; Shi, Yu-Ting YT; Ai, San-Xi SX; Dai, Mei-Zhi MZ; Zhang, Peng P; Xia, Kun K; Chen, Sheng-Di SD; Tang, Bei-Sha BS

Publication Date: 2011-12

Variant appearance in text: PRRT2: 796C>T

PubMed Link: 22120146

Variant Present in the following documents:

• Main text
• awr289.pdf

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