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Article

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.

Brain : a journal of neurology - 1 Dec 2011

Wang Jun-Ling, Cao Li, Li Xun-Hua, Hu Zheng-Mao, Li Jia-Da, Zhang Jian-Guo, Liang Yu, San-A, Li Nan, Chen Su-Qin, Guo Ji-Feng, Jiang Hong, Shen Lu, Zheng Lan, Mao Xiao, Yan Wei-Qian, Zhou Ying, Shi Yu-Ting, Ai San-Xi, Dai Mei-Zhi, Zhang Peng, Xia Kun, Chen Sheng-Di, Tang Bei-Sha

Abstract excerpt

Paroxysmal kinesigenic dyskinesias is a paroxysmal movement disorder characterized by recurrent, brief attacks of abnormal involuntary movements induced by sudden voluntary movements. Although several loci, including the pericentromeric region of chromosome 16, have been linked to paroxysmal kine...

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Source

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Identifiers

PMID: 22120146
DOI: 10.1093/brain/awr289
PMCID: PMC3235563

Genes

PRRT2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22120146-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Research trail→

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Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.PMID 22120146Read ↗

Novel Locus for Paroxysmal Kinesigenic Dyskinesia Mapped to Chromosome 3q28-29.Semantic proximity Read ↗

A new genetic diagnosis strategy for paroxysmal kinesigenic dyskinesia: Targeted high-throughput detection of PRRT2 gene c.649 locus.Semantic proximity Read ↗

PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.Semantic proximity Read ↗

Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.Semantic proximity Read ↗

PRRT2 mutation screening in patients with paroxysmal kinesigenic dyskinesia from Southwest China.Semantic proximity Read ↗

Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene.Semantic proximity Read ↗

Proline-rich transmembrane protein 2-negative paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 163 patients.Semantic proximity Read ↗

A novel PRRT2 pathogenic variant in a family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures.Semantic proximity Read ↗

Clinical and Genetic Characteristics of Paroxysmal Kinesigenic Dyskinesia: A Single-Center Study and Literature Review.Semantic proximity Read ↗

Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis.Semantic proximity Read ↗

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.Semantic proximity Read ↗

Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia.Semantic proximity Read ↗

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