Article
A novel PRRT2 pathogenic variant in a family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures.
Cold Spring Harbor molecular case studies - 1 Feb 2018
Lu Jacqueline G, Bishop Juliet, Cheyette Sarah, Zhulin Igor B, Guo Su, Sobreira Nara, Brenner Steven E
Abstract excerpt
Paroxysmal kinesigenic dyskinesia (PKD) is a rare neurological disorder characterized by recurrent attacks of dyskinetic movements without alteration of consciousness that are often triggered by the initiation of voluntary movements. Whole-exome sequencing has revealed a cluster of pathogenic variants in PRRT2 (proline-rich transmembrane protein), a gene with a function in synaptic regulation that remains poorly...
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