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Pubmed ID :22832103
Publication Date : //

Mutations in the gene 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 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.

Authors : 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 ,

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