Publications:

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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: 718C>T; Arg240Ter

PubMed Link: 35925398

Variant Present in the following documents:

• 415_2022_11307_MOESM4_ESM.xlsx, sheet 1

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: PRRT2: R240*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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Novel and de novo point and large microdeletion mutation in PRRT2-related epilepsy.

Brain And Behavior

Yang, Li L; You, Cuiping C; Qiu, Shiyan S; Yang, Xiaofan X; Li, Yufen Y; Liu, Feng F; Zhang, Dongqing D; Niu, Yue Y; Xu, Liyun L; Xu, Na N; Li, Xia X; Luo, Fang F; Yang, Junli J; Li, Baomin B

Publication Date: 2020-05

Variant appearance in text: PRRT2: Arg240*

PubMed Link: 32237035

Variant Present in the following documents:

• Main text
• BRB3-10-e01597.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: R240X

PubMed Link: 30713971

Variant Present in the following documents:

• Main text

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PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects.

Oncotarget

Liu, Yo-Tsen YT; Nian, Fang-Shin FS; Chou, Wan-Ju WJ; Tai, Chin-Yin CY; Kwan, Shang-Yeong SY; Chen, Chien C; Kuo, Pei-Wen PW; Lin, Po-Hsi PH; Chen, Chin-Yi CY; Huang, Chia-Wei CW; Lee, Yi-Chung YC; Soong, Bing-Wen BW; Tsai, Jin-Wu JW

Publication Date: 2016-06-28

Variant appearance in text: PRRT2: R240X

PubMed Link: 27172900

Variant Present in the following documents:

• Main text
• oncotarget-07-39184.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: PKC: R240X

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: 718C>T

PubMed Link: 24370076

Variant Present in the following documents:

• 1471-2377-13-209-S2.xlsx, sheet 1

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PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine.

Neurology

Cloarec, Robin R; Bruneau, Nadine N; Rudolf, Gabrielle G; Massacrier, Annick A; Salmi, Manal M; Bataillard, Marc M; Boulay, Clotilde C; Caraballo, Roberto R; Fejerman, Natalio N; Genton, Pierre P; Hirsch, Edouard E; Hunter, Alasdair A; Lesca, Gaetan G; Motte, Jacques J; Roubertie, Agathe A; Sanlaville, Damien D; Wong, Sau-Wei SW; Fu, Ying-Hui YH; Rochette, Jacques J; Ptácek, Louis J LJ; Szepetowski, Pierre P

Publication Date: 2012-11-20

Variant appearance in text: PRRT2: R240X

PubMed Link: 23077017

Variant Present in the following documents:

• Main text

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PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort.

Plos One

Lee, Yi-Chung YC; Lee, Ming-Jen MJ; Yu, Hsiang-Yu HY; Chen, Chien C; Hsu, Chang-Hung CH; Lin, Kon-Ping KP; Liao, Kwong-Kum KK; Chang, Ming-Hong MH; Liao, Yi-Chu YC; Soong, Bing-Wen BW

Publication Date: 2012

Variant appearance in text: PRRT2: 718C>T; R240X

PubMed Link: 22870186

Variant Present in the following documents:

• Main text
• pone.0038543.pdf

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Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

Cell Reports

Lee, Hsien-Yang HY; Huang, Yong Y; Bruneau, Nadine N; Roll, Patrice P; Roberson, Elisha D O ED; Hermann, Mark M; Quinn, Emily E; Maas, James J; Edwards, Robert R; Ashizawa, Tetsuo T; Baykan, Betul B; Bhatia, Kailash K; Bressman, Susan S; Bruno, Michiko K MK; Brunt, Ewout R ER; Caraballo, Roberto R; Echenne, Bernard B; Fejerman, Natalio N; Frucht, Steve S; Gurnett, Christina A CA; Hirsch, Edouard E; Houlden, Henry H; Jankovic, Joseph J; Lee, Wei-Ling WL; Lynch, David R DR; Mohammed, Shehla S; Müller, Ulrich U; Nespeca, Mark P MP; Renner, David D; Rochette, Jacques J; Rudolf, Gabrielle G; Saiki, Shinji S; Soong, Bing-Wen BW; Swoboda, Kathryn J KJ; Tucker, Sam S; Wood, Nicholas N; Hanna, Michael M; Bowcock, Anne M AM; Szepetowski, Pierre P; Fu, Ying-Hui YH; Ptáček, Louis J LJ

Publication Date: 2012-01-26

Variant appearance in text: PRRT2: R240X

PubMed Link: 22832103

Variant Present in the following documents:

• Main text

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