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Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.
- Lee, Hsien-Yang;
- Huang, Yong;
- Bruneau, Nadine;
- Roll, Patrice;
- Roberson, Elisha DO;
- Hermann, Mark;
- Quinn, Emily;
- Maas, James;
- Edwards, Robert;
- Ashizawa, Tetsuo;
- Baykan, Betul;
- Bhatia, Kailash;
- Bressman, Susan;
- Bruno, Michiko K;
- Brunt, Ewout R;
- Caraballo, Roberto;
- Echenne, Bernard;
- Fejerman, Natalio;
- Frucht, Steve;
- Gurnett, Christina A;
- Hirsch, Edouard;
- Houlden, Henry;
- Jankovic, Joseph;
- Lee, Wei-Ling;
- Lynch, David R;
- Mohammed, Shehla;
- Müller, Ulrich;
- Nespeca, Mark P;
- Renner, David;
- Rochette, Jacques;
- Rudolf, Gabrielle;
- Saiki, Shinji;
- Soong, Bing-Wen;
- Swoboda, Kathryn J;
- Tucker, Sam;
- Wood, Nicholas;
- Hanna, Michael;
- Bowcock, Anne M;
- Szepetowski, Pierre;
- Fu, Ying-Hui;
- Ptáček, Louis J
- et al.
Published Web Location
https://doi.org/10.1016/j.celrep.2011.11.001Abstract
Paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) is an episodic movement disorder with autosomal-dominant inheritance and high penetrance, but the causative genetic mutation is unknown. We have now identified four truncating mutations involving the gene PRRT2 in the vast majority (24/25) of well-characterized families with PKD/IC. PRRT2 truncating mutations were also detected in 28 of 78 additional families. PRRT2 encodes a proline-rich transmembrane protein of unknown function that has been reported to interact with the t-SNARE, SNAP25. PRRT2 localizes to axons but not to dendritic processes in primary neuronal culture, and mutants associated with PKD/IC lead to dramatically reduced PRRT2 levels, leading ultimately to neuronal hyperexcitability that manifests in vivo as PKD/IC.
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