Article
Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.
Cell reports - 26 Jan 2012
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, 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
Abstract excerpt
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...
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