Publications:

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Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening.

Genes

Avnat, Eden E; Shapira, Guy G; Shoval, Shelly S; Israel-Elgali, Ifat I; Alkelai, Anna A; Shuldiner, Alan R AR; Gonzaga-Jauregui, Claudia C; Zidan, Jamal J; Maray, Taiseer T; Shomron, Noam N; Friedman, Eitan E

Publication Date: 2023-04-18

Variant appearance in text: PRRT2: 649del; Arg217fs

PubMed Link: 37107695

Variant Present in the following documents:

• genes-14-00937.pdf

View BVdb publication page

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A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: PRRT2: 641delC; R217Efs*12

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

View BVdb publication page

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Integrative proteomic characterization of adenocarcinoma of esophagogastric junction.

Nature Communications

Li, Shengli S; Yuan, Li L; Xu, Zhi-Yuan ZY; Xu, Jing-Li JL; Chen, Gui-Ping GP; Guan, Xiaoqing X; Pan, Guang-Zhao GZ; Hu, Can C; Dong, Jinyun J; Du, Yi-An YA; Yang, Li-Tao LT; Ni, Mao-Wei MW; Jiang, Rui-Bin RB; Zhu, Xiu X; Lv, Hang H; Xu, Han-Dong HD; Zhang, Sheng-Jie SJ; Qin, Jiang-Jiang JJ; Cheng, Xiang-Dong XD

Publication Date: 2023-02-11

Variant appearance in text: PRRT2: 649del; Arg217GlufsTer12

PubMed Link: 36774361

Variant Present in the following documents:

• 41467_2023_36462_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Clinical characteristics and genetics of ten Chinese children with PRRT2-associated neurological diseases.

Frontiers In Pediatrics

Liu, Meiyan M; Sun, Xiaoang X; Lin, Longlong L; Luo, Xiaona X; Wang, Simei S; Wang, Chunmei C; Zhang, Yuanfeng Y; Xu, Quanmei Q; Xu, Wuhen W; Wu, Shengnan S; Lan, Xiaoping X; Chen, Yucai Y

Publication Date: 2022

Variant appearance in text: PRRT2: 649del

PubMed Link: 36467477

Variant Present in the following documents:

• Main text
• fped-10-997088.pdf

View BVdb publication page

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Recurrent posterior fossa group A (PFA) ependymoma in a young child with constitutional mismatch repair deficiency (CMMRD).

Neuropathology And Applied Neurobiology

Briggs, Mayen M; Das, Anirban A; Firth, Helen H; Levine, Adrian A; Sánchez-Ramírez, Santiago S; Negm, Logine L; Ercan, Ayse B AB; Chung, Jill J; Bianchi, Vanessa V; Jalloh, Ibrahim I; Phyu, Poe P; Thorp, Nicky N; Grundy, Richard G RG; Hawkins, Cynthia C; Trotman, Jamie J; Tarpey, Patrick P; Tabori, Uri U; Allinson, Kieren K; Murray, Matthew J MJ; ,

Publication Date: 2022-11-07

Variant appearance in text: PRRT2: 649delC

PubMed Link: 36341503

Variant Present in the following documents:

• NAN-49-0-s001.xlsx, sheet 5

View BVdb publication page

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Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.

Jama Neurology

McKnight, Dianalee D; Morales, Ana A; Hatchell, Kathryn E KE; Bristow, Sara L SL; Bonkowsky, Joshua L JL; Perry, Michael Scott MS; Berg, Anne T AT; Borlot, Felippe F; Esplin, Edward D ED; Moretz, Chad C; Angione, Katie K; Ríos-Pohl, Loreto L; Nussbaum, Robert L RL; Aradhya, Swaroop S; , ; Haldeman-Englert, Chad R CR; Levy, Rebecca J RJ; Parachuri, Venu G VG; Lay-Son, Guillermo G; de Montellano, David J Dávila-Ortiz DJD; Ramirez-Garcia, Miguel Angel MA; Benítez Alonso, Edmar O EO; Ziobro, Julie J; Chirita-Emandi, Adela A; Felix, Temis M TM; Kulasa-Luke, Dianne D; Megarbane, Andre A; Karkare, Shefali S; Chagnon, Sarah L SL; Humberson, Jennifer B JB; Assaf, Melissa J MJ; Silva, Sebastian S; Zarroli, Katherine K; Boyarchuk, Oksana O; Nelson, Gary R GR; Palmquist, Rachel R; Hammond, Katherine C KC; Hwang, Sean T ST; Boutlier, Susan B SB; Nolan, Melinda M; Batley, Kaitlin Y KY; Chavda, Devraj D; Reyes-Silva, Carlos Alberto CA; Miroshnikov, Oleksandr O; Zuccarelli, Britton B; Amlie-Wolf, Louise L; Wheless, James W JW; Seinfeld, Syndi S; Kanhangad, Manoj M; Freeman, Jeremy L JL; Monroy-Santoyo, Susana S; Rodriguez-Vazquez, Natalia N; Ryan, Monique M MM; Machie, Michelle M; Guerra, Patricio P; Hassan, Muhammad Jawad MJ; Candee, Meghan S MS; Bupp, Caleb P CP; Park, Kristen L KL; Muller, Eric E; Lupo, Pamela P; Pedersen, Robert C RC; Arain, Amir M AM; Murphy, Andrea A; Schatz, Krista K; Mu, Weiyi W; Kalika, Paige M PM; Plaza, Lautaro L; Kellogg, Marissa A MA; Lora, Evelyn G EG; Carson, Robert P RP; Svystilnyk, Victoria V; Venegas, Viviana V; Luke, Rebecca R RR; Jiang, Huiyuan H; Stetsenko, Tetiana T; Dueñas-Roque, Milagros M MM; Trasmonte, Joseph J; Burke, Rebecca J RJ; Hurst, Anna C E ACE; Smith, Douglas M DM; Massingham, Lauren J LJ; Pisani, Laura L; Costin, Carrie E CE; Ostrander, Betsy B; Filloux, Francis M FM; Ananth, Amitha L AL; Mohamed, Ismail S IS; Nechai, Alla A; Dao, Jasmin M JM; Fahey, Michael C MC; Aliu, Ermal E; Falchek, Stephen S; Press, Craig A CA; Treat, Lauren L; Eschbach, Krista K; Starks, Angela A; Kammeyer, Ryan R; Bear, Joshua J JJ; Jacobson, Mona M; Chernuha, Veronika V; Meibos, Bailey B; Wong, Kristen K; Sweney, Matthew T MT; Espinoza, A Chris AC; Van Orman, Colin B CB; Weinstock, Arie A; Kumar, Ashutosh A; Soler-Alfonso, Claudia C; Nolan, Danielle A DA; Raza, Muhammad M; Rojas Carrion, Miguel David MD; Chari, Geetha G; Marsh, Eric D ED; Shiloh-Malawsky, Yael Y; Parikh, Sumit S; Gonzalez-Giraldo, Ernesto E; Fulton, Stephen S; Sogawa, Yoshimi Y; Burns, Kaitlyn K; Malets, Myroslava M; Montiel Blanco, Johnny David JD; Habela, Christa W CW; Wilson, Carey A CA; Guzmán, Guillermo G GG; Pavliuk, Mariia M

Publication Date: 2022-10-31

Variant appearance in text: PRRT2: 649del; Arg217Glufs

PubMed Link: 36315135

Variant Present in the following documents:

• jamaneurol-e223651-s001.pdf

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: 649delC

PubMed Link: 35627257

Variant Present in the following documents:

• Main text
• genes-13-00872.pdf

View BVdb publication page

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Clinical exome sequencing-Mistakes and caveats.

Human Mutation

Corominas, Jordi J; Smeekens, Sanne P SP; Nelen, Marcel R MR; Yntema, Helger G HG; Kamsteeg, Erik-Jan EJ; Pfundt, Rolph R; Gilissen, Christian C

Publication Date: 2022-08

Variant appearance in text: PRRT2: 649del

PubMed Link: 35191116

Variant Present in the following documents:

• Main text
• HUMU-43-1041.pdf

View BVdb publication page

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Case Report: Long-Term Suppression of Paroxysmal Kinesigenic Dyskinesia After Bilateral Thalamotomy.

Frontiers In Neurology

Murakami, Masato M; Horisawa, Shiro S; Azuma, Kenko K; Akagawa, Hiroyuki H; Nonaka, Taku T; Kawamata, Takakazu T; Taira, Takaomi T

Publication Date: 2021

Variant appearance in text: PRRT2: 649delC

PubMed Link: 34925221

Variant Present in the following documents:

• Main text
• fneur-12-789468.pdf

View BVdb publication page

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A renal cell carcinoma tumorgraft platform to advance precision medicine.

Cell Reports

Elias, Roy R; Tcheuyap, Vanina T VT; Kaushik, Akash K AK; Singla, Nirmish N; Gao, Ming M; Reig Torras, Oscar O; Christie, Alana A; Mulgaonkar, Aditi A; Woolford, Layton L; Stevens, Christina C; Kettimuthu, Kavitha Priya KP; Pavia-Jimenez, Andrea A; Boroughs, Lindsey K LK; Joyce, Allison A; Dakanali, Marianna M; Notgrass, Hollis H; Margulis, Vitaly V; Cadeddu, Jeffrey A JA; Pedrosa, Ivan I; Williams, Noelle S NS; Sun, Xiankai X; DeBerardinis, Ralph J RJ; Öz, Orhan K OK; Zhong, Hua H; Seshagiri, Somasekar S; Modrusan, Zora Z; Cantarel, Brandi L BL; Kapur, Payal P; Brugarolas, James J

Publication Date: 2021-11-23

Variant appearance in text: PRRT2: 649delC; R217Efs*12

PubMed Link: 34818533

Variant Present in the following documents:

• NIHMS1761779-supplement-Table_S8.xlsx, sheet 1

View BVdb publication page

---

A renal cell carcinoma tumorgraft platform to advance precision medicine.

Cell Reports

Elias, Roy R; Tcheuyap, Vanina T VT; Kaushik, Akash K AK; Singla, Nirmish N; Gao, Ming M; Reig Torras, Oscar O; Christie, Alana A; Mulgaonkar, Aditi A; Woolford, Layton L; Stevens, Christina C; Kettimuthu, Kavitha Priya KP; Pavia-Jimenez, Andrea A; Boroughs, Lindsey K LK; Joyce, Allison A; Dakanali, Marianna M; Notgrass, Hollis H; Margulis, Vitaly V; Cadeddu, Jeffrey A JA; Pedrosa, Ivan I; Williams, Noelle S NS; Sun, Xiankai X; DeBerardinis, Ralph J RJ; Öz, Orhan K OK; Zhong, Hua H; Seshagiri, Somasekar S; Modrusan, Zora Z; Cantarel, Brandi L BL; Kapur, Payal P; Brugarolas, James J

Publication Date: 2021-11-23

Variant appearance in text: PRRT2: 649delC; R217Efs*12

PubMed Link: 34818533

Variant Present in the following documents:

• NIHMS1761779-supplement-Table_S8.xlsx, sheet 1

View BVdb publication page

---

Whole-genome profiling of nasopharyngeal carcinoma reveals viral-host co-operation in inflammatory NF-κB activation and immune escape.

Nature Communications

Bruce, Jeff P JP; To, Ka-Fai KF; Lui, Vivian W Y VWY; Chung, Grace T Y GTY; Chan, Yuk-Yu YY; Tsang, Chi Man CM; Yip, Kevin Y KY; Ma, Brigette B Y BBY; Woo, John K S JKS; Hui, Edwin P EP; Mak, Michael K F MKF; Lee, Sau-Dan SD; Chow, Chit C; Velapasamy, Sharmila S; Or, Yvonne Y Y YYY; Siu, Pui Kei PK; El Ghamrasni, Samah S; Prokopec, Stephenie S; Wu, Man M; Kwan, Johnny S H JSH; Liu, Yuchen Y; Chan, Jason Y K JYK; van Hasselt, C Andrew CA; Young, Lawrence S LS; Dawson, Christopher W CW; Paterson, Ian C IC; Yap, Lee-Fah LF; Tsao, Sai-Wah SW; Liu, Fei-Fei FF; Chan, Anthony T C ATC; Pugh, Trevor J TJ; Lo, Kwok-Wai KW

Publication Date: 2021-07-07

Variant appearance in text: PRRT2: 649delC; R217Efs*12

PubMed Link: 34234122

Variant Present in the following documents:

• 41467_2021_24348_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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The Genotype and Phenotype of Proline-Rich Transmembrane Protein 2 Associated Disorders in Chinese Children.

Frontiers In Pediatrics

Luo, Han-Yu HY; Xie, Ling-Ling LL; Hong, Si-Qi SQ; Li, Xiu-Juan XJ; Li, Mei M; Hu, Yue Y; Ma, Jian-Nan JN; Wu, Peng P; Zhong, Min M; Cheng, Min M; Li, Ting-Song TS; Jiang, Li L

Publication Date: 2021

Variant appearance in text: PRRT2: 649delC

PubMed Link: 34041212

Variant Present in the following documents:

• Main text
• fped-09-676616.pdf

View BVdb publication page

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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: 649delC

PubMed Link: 33791013

Variant Present in the following documents:

• Main text
• etm-21-05-09935.pdf

View BVdb publication page

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Comprehensive Exonic Sequencing of Hemiplegic Migraine-Related Genes in a Cohort of Suspected Probands Identifies Known and Potential Pathogenic Variants.

Cells

Sutherland, Heidi G HG; Maksemous, Neven N; Albury, Cassie L CL; Ibrahim, Omar O; Smith, Robert A RA; Lea, Rod A RA; Haupt, Larisa M LM; Jenkins, Bronwyn B; Tsang, Benjamin B; Griffiths, Lyn R LR

Publication Date: 2020-10-28

Variant appearance in text: PRRT2: 649delC

PubMed Link: 33126486

Variant Present in the following documents:

• Main text
• cells-09-02368.pdf

View BVdb publication page

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A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Ganesan, Shiva S; Galer, Peter D PD; Helbig, Katherine L KL; McKeown, Sarah E SE; O'Brien, Margaret M; Gonzalez, Alexander K AK; Felmeister, Alex S AS; Khankhanian, Pouya P; Ellis, Colin A CA; Helbig, Ingo I

Publication Date: 2020-12

Variant appearance in text: PRRT2: 649delC; Arg217GlufsX12

PubMed Link: 32773773

Variant Present in the following documents:

• 41436_2020_923_MOESM3_ESM.xls, sheet 1

View BVdb publication page

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A Novel PRRT2 Variant in Chinese Patients Suffering from Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsion.

Behavioural Neurology

Baldi, Salem S; Zhu, Jin-Ling JL; Hu, Qing-Yun QY; Wang, Ju-Li JL; Zhang, Jin-Bo JB; Zhang, Shu-Hong SH

Publication Date: 2020

Variant appearance in text: PRRT2: 649delC

PubMed Link: 32509037

Variant Present in the following documents:

• Main text
• BN2020-2097059.pdf

View BVdb publication page

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Different experiences of two PRRT2-associated self-limited familial infantile epilepsy.

Acta Neurologica Belgica

Zhao, Qianlei Q; Liu, Zhenwei Z; Hu, Ying Y; Fang, Shiyu S; Zheng, Feixia F; Li, Xiucui X; Li, Feng F; Lin, Zhongdong Z

Publication Date: 2020-08

Variant appearance in text: PRRT2: 649del

PubMed Link: 32246320

Variant Present in the following documents:

• Main text
• 13760_2020_Article_1348.pdf

View BVdb publication page

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Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Scientific Reports

Xiang, Jiale J; Yang, Jiyun J; Chen, Lisha L; Chen, Qiang Q; Yang, Haiyan H; Sun, Chengcheng C; Zhou, Qing Q; Peng, Zhiyu Z

Publication Date: 2020-01-15

Variant appearance in text: PRRT2: 649delC; Arg217Glufs*12

PubMed Link: 31942019

Variant Present in the following documents:

• 41598_2019_57335_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study.

Frontiers In Genetics

Graziola, Federica F; Garone, Giacomo G; Stregapede, Fabrizia F; Bosco, Luca L; Vigevano, Federico F; Curatolo, Paolo P; Bertini, Enrico E; Travaglini, Lorena L; Capuano, Alessandro A

Publication Date: 2019

Variant appearance in text: N/A

PubMed Link: 31737037

Variant Present in the following documents:

View BVdb publication page

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Clinical features of patients with paroxysmal kinesigenic dyskinesia, mutation screening of PRRT2 and the effects of morning draughts of oxcarbazepine.

Bmc Pediatrics

Pan, Gang G; Zhang, Linmei L; Zhou, Shuizhen S

Publication Date: 2019-11-14

Variant appearance in text: PRRT2: 649delC

PubMed Link: 31722684

Variant Present in the following documents:

• Main text
• 12887_2019_Article_1798.pdf

View BVdb publication page

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Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life.

Frontiers In Neurology

Jang, Se Song SS; Kim, Soo Yeon SY; Kim, Hunmin H; Hwang, Hee H; Chae, Jong Hee JH; Kim, Ki Joong KJ; Kim, Jong-Il JI; Lim, Byung Chan BC

Publication Date: 2019

Variant appearance in text: PRRT2: 649delC

PubMed Link: 31572294

Variant Present in the following documents:

• Main text
• fneur-10-00988.pdf

View BVdb publication page

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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: 649del; Arg217Glufs*12

PubMed Link: 31440721

Variant Present in the following documents:

• EPI4-4-397-s003.xlsx, sheet 1

View BVdb publication page

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Advances in genetics of migraine.

The Journal Of Headache And Pain

Sutherland, Heidi G HG; Albury, Cassie L CL; Griffiths, Lyn R LR

Publication Date: 2019-06-21

Variant appearance in text: PRRT2: 649delC; Arg217Glufs*12

PubMed Link: 31226929

Variant Present in the following documents:

• Main text
• 10194_2019_Article_1017.pdf

View BVdb publication page

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: PRRT2: 641delC

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma.

Nature Communications

Rashid, Mamunur M; van der Horst, Michiel M; Mentzel, Thomas T; Butera, Francesca F; Ferreira, Ingrid I; Pance, Alena A; Rütten, Arno A; Luzar, Bostjan B; Marusic, Zlatko Z; de Saint Aubain, Nicolas N; Ko, Jennifer S JS; Billings, Steven D SD; Chen, Sofia S; Abi Daoud, Marie M; Hewinson, James J; Louzada, Sandra S; Harms, Paul W PW; Cerretelli, Guia G; Robles-Espinoza, Carla Daniela CD; Patel, Rajiv M RM; van der Weyden, Louise L; Bakal, Chris C; Hornick, Jason L JL; Arends, Mark J MJ; Brenn, Thomas T; Adams, David J DJ

Publication Date: 2019-05-17

Variant appearance in text: PRRT2: 641delC

PubMed Link: 31101826

Variant Present in the following documents:

• 41467_2019_9979_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

---

Paroxysmal Dyskinesia in Children: from Genes to the Clinic.

Journal Of Clinical Neurology (Seoul, Korea)

Kim, Soo Yeon SY; Lee, Jin Sook JS; Kim, Woo Joong WJ; Kim, Hyuna H; Choi, Sun Ah SA; Lim, Byung Chan BC; Kim, Ki Joong KJ; Chae, Jong Hee JH

Publication Date: 2018-10

Variant appearance in text: PRRT2: 649delC; R217Efs

PubMed Link: 30198221

Variant Present in the following documents:

• Main text
• jcn-14-492.pdf

View BVdb publication page

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Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort.

Journal Of Human Genetics

Zeng, Qi Q; Yang, Xiaoling X; Zhang, Jing J; Liu, Aijie A; Yang, Zhixian Z; Liu, Xiaoyan X; Wu, Ye Y; Wu, Xiru X; Wei, Liping L; Zhang, Yuehua Y

Publication Date: 2018-01

Variant appearance in text: PRRT2: 649delC

PubMed Link: 29215089

Variant Present in the following documents:

• Main text
• 10038_2017_Article_359.pdf

View BVdb publication page

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PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by regulating synaptic transmission in cerebellum.

Cell Research

Tan, Guo-He GH; Liu, Yuan-Yuan YY; Wang, Lu L; Li, Kui K; Zhang, Ze-Qiang ZQ; Li, Hong-Fu HF; Yang, Zhong-Fei ZF; Li, Yang Y; Li, Dan D; Wu, Ming-Yue MY; Yu, Chun-Lei CL; Long, Juan-Juan JJ; Chen, Ren-Chao RC; Li, Li-Xi LX; Yin, Lu-Ping LP; Liu, Ji-Wei JW; Cheng, Xue-Wen XW; Shen, Qi Q; Shu, You-Sheng YS; Sakimura, Kenji K; Liao, Lu-Jian LJ; Wu, Zhi-Ying ZY; Xiong, Zhi-Qi ZQ

Publication Date: 2018-01

Variant appearance in text: PRRT2: 649delC

PubMed Link: 29056747

Variant Present in the following documents:

• Main text
• cr2017128a.pdf

View BVdb publication page

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Genetic and epigenetic mechanisms of epilepsy: a review.

Neuropsychiatric Disease And Treatment

Chen, Tian T; Giri, Mohan M; Xia, Zhenyi Z; Subedi, Yadu Nanda YN; Li, Yan Y

Publication Date: 2017

Variant appearance in text: PRRT2: 649delC

PubMed Link: 28761347

Variant Present in the following documents:

• Main text
• ndt-13-1841.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: PRRT2: 649delC; Arg217Glufs

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: PRRT2: 641delC

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

---

PRRT2 mutations are related to febrile seizures in epileptic patients.

International Journal Of Molecular Sciences

He, Zheng-Wen ZW; Qu, Jian J; Zhang, Ying Y; Mao, Chen-Xue CX; Wang, Zhi-Bin ZB; Mao, Xiao-Yuan XY; Deng, Zhi-Yong ZY; Zhou, Bo-Ting BT; Yin, Ji-Ye JY; Long, Hong-Yu HY; Xiao, Bo B; Zhang, Yu Y; Zhou, Hong-Hao HH; Liu, Zhao-Qian ZQ

Publication Date: 2014-12-16

Variant appearance in text: PRRT2: 649delC

PubMed Link: 25522171

Variant Present in the following documents:

• Main text
• ijms-15-23408.pdf

View BVdb publication page

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Clinical manifestations in paroxysmal kinesigenic dyskinesia patients with proline-rich transmembrane protein 2 gene mutation.

Journal Of Clinical Neurology (Seoul, Korea)

Youn, Jinyoung J; Kim, Ji Sun JS; Lee, Munhyang M; Lee, Jeehun J; Roh, Hakjae H; Ki, Chang-Seok CS; Choa, Jin Whan JW

Publication Date: 2014-01

Variant appearance in text: PRRT2: 649delC

PubMed Link: 24465263

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: 649delC

PubMed Link: 24370076

Variant Present in the following documents:

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

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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: 649delC; R217Efs*12

PubMed Link: 22870186

Variant Present in the following documents:

• Main text
• pone.0038543.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: 649delC

PubMed Link: 22752065

Variant Present in the following documents:

• Main text
• 415_2012_Article_6592.pdf

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