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Article

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia

20 Nov 2011

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 22101681
DOI: 10.1038/ng.1008

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Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesiaPMID 22101681Read ↗

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

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

The evolving spectrum of PRRT2-associated paroxysmal diseases.Semantic proximity Read ↗

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

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2-Related Disorders.Semantic proximity Read ↗

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

Exome‐Wide Analyses in Paroxysmal Kinesigenic Dyskinesia Confirm <scp> <i>TMEM151A</i> </scp> as a Novel Causative GeneSemantic proximity Read ↗

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

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

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

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