Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions

Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions (PKD/IC) is an episodic movement disorder with autosomal dominant inheritance and high penetrance, but the causative gene is unknown. We have now identified four truncating mutations involving the PRRT2 gene in the vast majority (24/25) of...

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Hlavní autoři: Lee, Hsien-Yang, Huang, Yong, Bruneau, Nadine, Roll, Patrice, Roberson, Elisha D.O., 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., Mohamed, 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, Szepetowski, Pierre, Fu, Ying-Hui, Ptáček, Louis J.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2011
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3334308/
https://ncbi.nlm.nih.gov/pubmed/22832103
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.celrep.2011.11.001
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