Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Clinical neurology and neurosurgery - 1 Aug 2017

Zhang Yu, Li Lin, Chen Wei, Gan Jing, Liu Zhen Guo

Abstract excerpt

OBJECTIVE: As a rare type of movement disorder, paroxysmal kinesigenic dyskinesia mainly affects children and is associated with PRRT2 gene mutation. The objective of our study is to identify whether the sporadic patients share the same genotype-phenotype correlations as familial patients in China. PATIENTS AND METHODS: We investigated the clinical characteristics and PRRT2 gene mutations of 15 sporadic patients...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Child
Share to China

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dystonia

Share to Follow-Up Studies

Share to Membrane Proteins

Share to Nerve Tissue Proteins

Share to Young Adult

Source

Identifiers

PMID: 28525812
DOI: 10.1016/j.clineuro.2017.05.004

Genes

PRRT2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical characteristics and PRRT2 gene mutation analysis of sporadic patients with paroxysmal kinesigenic dyskinesia in China.PMID 28525812Read ↗

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

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

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

PRRT2 mutations in a cohort of Chinese families with paroxysmal kinesigenic dyskinesia and genotype-phenotype correlation reanalysis in literatures.Semantic proximity Read ↗

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

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

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

Phenotypic variability and genetic characteristics of PRRT2-associated paroxysmal movement disorders in 13 Chinese familiesSemantic proximity Read ↗

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

Paroxysmal kinesigenic dyskinesia associated with a novel POLG variant: A case report.Semantic proximity Read ↗

[Clinical manifestations and genetic diagnosis of paroxysmal kinesigenic dyskinesia].Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.