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Article

Genotype-phenotype correlation in a cohort of paroxysmal kinesigenic dyskinesia cases.

Journal of the neurological sciences - 15 May 2014

Mao Cheng-Yuan, Shi Chang-He, Song Bo, Wu Jun, Ji Yan, Qin Jie, Li Yu-Sheng, Wang Jing-Jing, Shang Dan-Dan, Sun Shi-Lei, Xu Yu-Ming

Abstract excerpt

BACKGROUND: Recently, PRRT2 gene mutations have been identified as a causative factor of paroxysmal kinesigenic dyskinesia (PKD). However, evidence is still lacking with respect to the genotype to phenotype correlation in PKD patients. METHODS: We recruited a cohort of PKD patients with or without PRRT2 mutations for the study, and followed them for 6 months to observe the response to carbamazepine treatment....

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Source

Identifiers

PMID: 24661410
DOI: 10.1016/j.jns.2014.02.034

Genes

PRRT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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