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Article

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

5 Mar 2012

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 22386217
DOI: 10.1016/j.parkreldis.2012.02.006

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Related research

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Identification of a novel PRRT2 mutation in patients with paroxysmal kinesigenic dyskinesias and c.649dupC as a mutation hot-spotPMID 22386217Read ↗

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

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

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

Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance.Semantic proximity Read ↗

PRRT2 c.649dupC mutation derived from de novo in paroxysmal kinesigenic dyskinesia.Semantic proximity Read ↗

[Identification of two novel PRRT2 gene variants in two children with paroxysmal kinesigenic dyskinesia].Semantic proximity Read ↗

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

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

PRRT2 mutations and paroxysmal disorders.Semantic proximity Read ↗

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

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

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