Infantile Convulsions Collaborative Working Group

United States

Infantile Convulsions Collaborative Working Group

United States

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Lee H.-Y.,University of California at San Francisco | Huang Y.,University of California at San Francisco | Huang Y.,Howard Hughes Medical Institute | Bruneau N.,French Institute of Health and Medical Research | And 46 more authors.
Cell Reports | Year: 2012

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. © 2012 The Authors.

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