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Article

Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression.

Journal of medical genetics - 1 Feb 2012

Liu Qing, Qi Zhan, Wan Xin-Hua, Li Jing-Yun, Shi Lei, Lu Qiang, Zhou Xiang-Qin, Qiao Lei, Wu Li-Wen, Liu Xiu-Qin, Yang Wei, Liu Ying, Cui Li-Ying, Zhang Xue

Abstract excerpt

BACKGROUND: Paroxysmal dyskinesias (PDs), a clinically and genetically heterogeneous group of episodic movement disorders, include kinesigenic PD (PKD), exercise-induced PD (PED) and non-kinesigenic PD (PNKD). These disorders are all transmitted as autosomal dominant traits with incomplete penetrance. Several PD-related genetic disorders, including PKD and familial infantile convulsions with paroxysmal...

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Source

Identifiers

PMID: 22209761
DOI: 10.1136/jmedgenet-2011-100653

Genes

PRRT2
PNKD

Variants

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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Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression.PMID 22209761Read ↗

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Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes.Semantic proximity Read ↗

Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.Semantic proximity Read ↗

PRRT2 Mutations in Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions in a Taiwanese CohortSemantic proximity Read ↗

PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions.Semantic proximity Read ↗

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

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

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

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