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Article

PRRT2 mutation correlated with phenotype of paroxysmal kinesigenic dyskinesia and drug response.

Neurology - 16 Apr 2013

Li Hong-Fu, Chen Wan-Jin, Ni Wang, Wang Kai-Yan, Liu Gong-Lu, Wang Ning, Xiong Zhi-Qi, Xu Jianfeng, Wu Zhi-Ying

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Source

Identifiers

PMID: 23535490
DOI: 10.1212/WNL.0b013e31828cf7e1

Genes

PRRT2

Provenance

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Related research

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Research trail→

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PRRT2 mutation correlated with phenotype of paroxysmal kinesigenic dyskinesia and drug response.PMID 23535490Read ↗

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

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

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

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

Genotype-phenotype correlation in a cohort of paroxysmal kinesigenic dyskinesia cases.Semantic proximity Read ↗

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

Paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 110 patients.Semantic proximity Read ↗

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

Progressive ataxia related to PRRT2 gene mutation.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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