Dataset Information

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

ABSTRACT: 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.

SUBMITTER: Lee HY

PROVIDER: S-EPMC3334308 | biostudies-literature | 2012 Jan

REPOSITORIES: biostudies-literature

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Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

Lee Hsien-Yang HY Huang Yong Y Bruneau Nadine N Roll Patrice P Roberson Elisha D O ED Hermann Mark M Quinn Emily E Maas James J Edwards Robert R Ashizawa Tetsuo T Baykan Betul B Bhatia Kailash K Bressman Susan S Bruno Michiko K MK Brunt Ewout R ER Caraballo Roberto R Echenne Bernard B Fejerman Natalio N Frucht Steve S Gurnett Christina A CA Hirsch Edouard E Houlden Henry H Jankovic Joseph J Lee Wei-Ling WL Lynch David R DR Mohammed Shehla S Müller Ulrich U Nespeca Mark P MP Renner David D Rochette Jacques J Rudolf Gabrielle G Saiki Shinji S Soong Bing-Wen BW Swoboda Kathryn J KJ Tucker Sam S Wood Nicholas N Hanna Michael M Bowcock Anne M AM Szepetowski Pierre P Fu Ying-Hui YH Ptáček Louis J LJ

Cell reports 20111215 1

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 funct ...[more]

PMID: 22832103

Dataset Information

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

Publications

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

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