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Article

PRRT2 truncated mutations lead to nonsense-mediated mRNA decay in Paroxysmal Kinesigenic Dyskinesia.

Parkinsonism & related disorders - 1 Dec 2014

Wu Li, Tang Hui-Dong, Huang Xiao-Jun, Zheng Lan, Liu Xiao-Li, Wang Tian, Wang Jing-Yi, Cao Li, Chen Sheng-Di

Abstract excerpt

BACKGROUND AND PURPOSE: Paroxysmal Kinesigenic Dyskinesia (PKD) is an episodic involuntary movement disorder characterized by recurrent and brief involuntary movements. Proline-rich transmembrane protein 2 (PRRT2) has been identified as the causative gene for PKD, Benign familial infantile convulsions (BFIC) and Infantile convulsions with choreoathetosis (ICCA). As well, PRRT2 mutations have been detected in...

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Source

Identifiers

PMID: 25457817
DOI: 10.1016/j.parkreldis.2014.10.012

Genes

PRRT2
PNKD
UPF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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