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Article

Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance.

Neurology - 28 Aug 2012

Friedman Jennifer, Olvera Jesus, Silhavy Jennifer L, Gabriel Stacey B, Gleeson Joseph G

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22895590
DOI: 10.1212/WNL.0b013e318266fabf
PMCID: PMC3425846

Genes

PRRT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance.PMID 22895590Read ↗

PRRT2 mutation correlated with phenotype of paroxysmal kinesigenic dyskinesia and drug response.Semantic proximity Read ↗

A common PRRT2 mutation in familial paroxysmal kinesigenic dyskinesia in Hong Kong: a case series of 16 patients.Semantic proximity Read ↗

Identification of a novel PRRT2 mutation in patients with paroxysmal kinesigenic dyskinesias and c.649dupC as a mutation hot-spotSemantic proximity Read ↗

Phenotypic overlap among paroxysmal dyskinesia subtypes: Lesson from a family with PRRT2 gene mutation.Semantic proximity Read ↗

Novel loss-of-function PRRT2 mutation causes paroxysmal kinesigenic dyskinesia in a Han Chinese family.Semantic proximity Read ↗

PRRT2 mutations and paroxysmal disorders.Semantic proximity Read ↗

[Clinical features and PRRT2 gene mutation in paroxysmal kinesigenic dyskinesia].Semantic proximity Read ↗

Clinico-genetic comparisons of paroxysmal kinesigenic dyskinesia patients with and without PRRT2 mutations.Semantic proximity Read ↗

Paroxysmal kinesigenic dyskinesia: clinical report of 10 cases from three pedigrees with literature review.Semantic proximity Read ↗

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesiaSemantic proximity Read ↗

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

Clinical characteristics and PRRT2 gene mutation analysis of sporadic patients with paroxysmal kinesigenic dyskinesia in China.Semantic proximity Read ↗

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