Publications:

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: PRRT2: 922C>T; Arg308Cys

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

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Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.

Jama Network Open

SoRelle, Jeffrey A JA; Pascual, Juan M JM; Gotway, Garrett G; Park, Jason Y JY

Publication Date: 2020-04-01

Variant appearance in text: PRRT2: 922C>T; Arg308Cys; rs932713001

PubMed Link: 32347949

Variant Present in the following documents:

• jamanetwopen-3-e203812-s001.pdf

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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: 922C>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: R308C

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: R308C

PubMed Link: 27172900

Variant Present in the following documents:

• Main text
• oncotarget-07-39184.pdf

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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: R308C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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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: 922C>T

PubMed Link: 24370076

Variant Present in the following documents:

• 1471-2377-13-209-S2.xlsx, sheet 1

View BVdb publication page

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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: R308C

PubMed Link: 22870186

Variant Present in the following documents:

• Main text
• pone.0038543.pdf

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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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