Publications:

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Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: PRRT2: R217X

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 1

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Clinical and genotypic analysis in determining dystonia non-motor phenotypic heterogeneity: a UK Biobank study.

Journal Of Neurology

Wadon, Megan E ME; Fenner, Eilidh E; Kendall, Kimberley M KM; Bailey, Grace A GA; Sandor, Cynthia C; Rees, Elliott E; Peall, Kathryn J KJ

Publication Date: 2022-12

Variant appearance in text: PRRT2: 649C>T; Arg217Ter

PubMed Link: 35925398

Variant Present in the following documents:

• 415_2022_11307_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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The Benefit of Multigene Panel Testing for the Diagnosis and Management of the Genetic Epilepsies.

Genes

Leduc-Pessah, Heather H; White-Brown, Alexandre A; Hartley, Taila T; Pohl, Daniela D; Dyment, David A DA

Publication Date: 2022-05-13

Variant appearance in text: PRRT2: 649C>T; Arg217Ter

PubMed Link: 35627257

Variant Present in the following documents:

• Main text
• genes-13-00872.pdf

View BVdb publication page

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Proline-rich transmembrane protein 2 specifically binds to GluA1 but has no effect on AMPA receptor-mediated synaptic transmission.

Journal Of Clinical Laboratory Analysis

Feng, Hao-Yang HY; Qiao, Fengchang F; Tan, Jianxin J; Zhang, Xiaozuo X; Hu, Ping P; Shi, Yun Stone YS; Xu, Zhengfeng Z

Publication Date: 2022-02

Variant appearance in text: PRRT2: 649C>T; R217X

PubMed Link: 34997978

Variant Present in the following documents:

• Main text
• JCLA-36-e24196.pdf

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Novel PRRT2 gene variants identified in paroxysmal kinesigenic dyskinesia and benign familial infantile epilepsy in Chinese families.

Experimental And Therapeutic Medicine

He, Jialinzi J; Tang, Haiyun H; Liu, Chaorong C; Tan, Langzi L; Xiao, Wenbiao W; Xiao, Bo B; Long, Hongyu H; Long, Lili L

Publication Date: 2021-05

Variant appearance in text: PRRT2: 649C>T

PubMed Link: 33791013

Variant Present in the following documents:

• Main text
• etm-21-05-09935.pdf

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PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?

Italian Journal Of Pediatrics

Pavone, Piero P; Corsello, Giovanni G; Cho, Sung Yoon SY; Pappalardo, Xena Giada XG; Ruggieri, Martino M; Marino, Simona Domenica SD; Jin, Dong Kyu DK; Marino, Silvia S; Falsaperla, Raffaele R

Publication Date: 2019-12-04

Variant appearance in text:

PubMed Link: 31801583

Variant Present in the following documents:

• 13052_2019_Article_755.pdf

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Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Epilepsia Open

Truty, Rebecca R; Patil, Nila N; Sankar, Raman R; Sullivan, Joseph J; Millichap, John J; Carvill, Gemma G; Entezam, Ali A; Esplin, Edward D ED; Fuller, Amy A; Hogue, Michelle M; Johnson, Britt B; Khouzam, Amirah A; Kobayashi, Yuya Y; Lewis, Rachel R; Nykamp, Keith K; Riethmaier, Darlene D; Westbrook, Jody J; Zeman, Michelle M; Nussbaum, Robert L RL; Aradhya, Swaroop S

Publication Date: 2019-09

Variant appearance in text: PRRT2: 649C>T; Arg217*

PubMed Link: 31440721

Variant Present in the following documents:

• EPI4-4-397-s003.xlsx, sheet 1

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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: R217X

PubMed Link: 30713971

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing.

Scientific Reports

Wang, Yimin Y; Du, Xiaonan X; Bin, Rao R; Yu, Shanshan S; Xia, Zhezhi Z; Zheng, Guo G; Zhong, Jianmin J; Zhang, Yunjian Y; Jiang, Yong-Hui YH; Wang, Yi Y

Publication Date: 2017-01-11

Variant appearance in text: PRRT2: Arg217X

PubMed Link: 28074849

Variant Present in the following documents:

• Main text
• srep40319.pdf

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Mutation Analysis of MR-1, SLC2A1, and CLCN1 in 28 PRRT2-negative Paroxysmal Kinesigenic Dyskinesia Patients.

Chinese Medical Journal

Wang, Hong-Xia HX; Li, Hong-Fu HF; Liu, Gong-Lu GL; Wen, Xiao-Dan XD; Wu, Zhi-Ying ZY

Publication Date: 2016-05-05

Variant appearance in text: PRRT2: 649C>T

PubMed Link: 27098784

Variant Present in the following documents:

• CMJ-129-1017.pdf

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The clinical and genetic heterogeneity of paroxysmal dyskinesias.

Brain : A Journal Of Neurology

Gardiner, Alice R AR; Jaffer, Fatima F; Dale, Russell C RC; Labrum, Robyn R; Erro, Roberto R; Meyer, Esther E; Xiromerisiou, Georgia G; Stamelou, Maria M; Walker, Matthew M; Kullmann, Dimitri D; Warner, Tom T; Jarman, Paul P; Hanna, Mike M; Kurian, Manju A MA; Bhatia, Kailash P KP; Houlden, Henry H

Publication Date: 2015-12

Variant appearance in text: PRRT2: R217X

PubMed Link: 26598494

Variant Present in the following documents:

• Main text
• awv310.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: 649C>T

PubMed Link: 24370076

Variant Present in the following documents:

• Main text
• 1471-2377-13-209-S2.xlsx, sheet 1
• 1471-2377-13-209.pdf

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Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia.

Journal Of Neurology

Groffen, Alexander J A AJ; Klapwijk, Thom T; van Rootselaar, Anne-Fleur AF; Groen, Justus L JL; Tijssen, Marina A J MA

Publication Date: 2013-01

Variant appearance in text: PRRT2: 649C>T

PubMed Link: 22752065

Variant Present in the following documents:

• Main text
• 415_2012_Article_6592.pdf

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