# Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/mutations-in-the-gene-prrt2-cause-paroxysmal-kinesigenic-dyskinesia-with/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Hsien-Yang Lee,Yong Huang,Nadine Bruneau,Patrice Roll,Elisha Roberson,Mark Hermann,Emily A. Quinn,James B. Maas,Robert H. Edwards,Tetsuo Ashizawa,Betül Baykan,Kailash P. Bhatia,Susan Bressman,Michiko Kimura Bruno,E. R. Brunt,Roberto Caraballo,Bernard Échenne,Natalio Fejerman,Steven J. Frucht,Christina A. Gurnett,Édouard Hirsch,Henry Houlden,Joseph Jankovic,Wei-Ling Lee,David R. Lynch,Shehla Mohammed,Ulrich Müller,Mark Nespeca,David Renner,Jacques Rochette,Gabrielle Rudolf,Shinji Saiki,Bing‐Wen Soong,Kathryn J. Swoboda,S. Craig Tucker,Nicholas Wood,Michael G. Hanna,A. Bowcock,Pierre Szepetowski,Ying‐Hui Fu,Louis J. Ptáček |
| Citations | 267 |
| DOI | 10.1016/j.celrep.2011.11.001 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | gold |
| OA URL | https://doi.org/10.1016/j.celrep.2011.11.001 |
| OpenAlex ID | https://openalex.org/W1996191050 |
| PMID | 22832103 |
| Type | article |
| Year | 2012 |

## Paper authors

- [Betül Baykan](https://scholariq.org/researchers/betul-baykan/)
- [Roberto Caraballo](https://scholariq.org/researchers/roberto-caraballo/)

## Paper primary topic

- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)

## Paper topics

- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [Genetics and Neurodevelopmental Disorders](https://scholariq.org/topics/genetics-and-neurodevelopmental-disorders/)
- [Epilepsy research and treatment](https://scholariq.org/topics/epilepsy-research-and-treatment/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.