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Article

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

Brain & development - 1 Aug 2013

Wang Kang, Zhao Xiaoyu, Du Yue, He Fangping, Peng Guoping, Luo Benyan

Abstract excerpt

Paroxysmal dyskinesia (PD) is a group of rare neurological conditions which was divided into paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD) and paroxysmal exercise-induced dyskinesia (PED) according to their clinical features. PRRT2 gene was initially identified as the major gene responsible for PKD followed by presence of various PRRT2 mutations discovered in families with...

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Identifiers

PMID: 22902309
DOI: 10.1016/j.braindev.2012.07.018

Genes

PRRT2
PNKD

Variants

Provenance

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Phenotypic overlap among paroxysmal dyskinesia subtypes: Lesson from a family with PRRT2 gene mutation.PMID 22902309Read ↗

Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression.Semantic proximity Read ↗

[PRRT2 gene-related paroxysmal disorders].Semantic proximity Read ↗

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

PRRT2-related disorders: further PKD and ICCA cases and review of the literature.Semantic proximity Read ↗

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

Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia.Semantic proximity Read ↗

Mutation Analysis of MR-1, SLC2A1, and CLCN1 in 28 PRRT2-negative Paroxysmal Kinesigenic Dyskinesia Patients.Semantic proximity Read ↗

PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population.Semantic proximity Read ↗

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

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

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

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

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