Article
PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.
Neurology - 20 Nov 2012
Gardiner Alice R, Bhatia Kailash P, Stamelou Maria, Dale Russell C, Kurian Manju A, Schneider Susanne A, Wali G M, Counihan Tim, Schapira Anthony H, Spacey Sian D, Valente Enza-Maria, Silveira-Moriyama Laura, Teive Hélio A G, Raskin Salmo, Sander Josemir W, Lees Andrew, Warner Tom, Kullmann Dimitri M, Wood Nicholas W, Hanna Michael, Houlden Henry
Abstract excerpt
OBJECTIVE: The proline-rich transmembrane protein (PRRT2) gene was recently identified using exome sequencing as the cause of autosomal dominant paroxysmal kinesigenic dyskinesia (PKD) with or without infantile convulsions (IC) (PKD/IC syndrome). Episodic neurologic disorders, such as epilepsy, migraine, and paroxysmal movement disorders, often coexist and are thought to have a shared channel-related etiology. To...
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