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

Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q.

American journal of human genetics - 1 Jul 1996

Fink J K, Rainer S, Wilkowski J, Jones S M, Kume A, Hedera P, Albin R, Mathay J, Girbach L, Varvil T, Otterud B, Leppert M

Abstract excerpt

Paroxysmal dystonic choreoathetosis (PDC) is characterized by attacks of involuntary movements that last up to several hours and occur at rest both spontaneously and following caffeine or alcohol consumption. We analyzed a Polish-American kindred with autosomal dominant PDC and identified tight linkage between the disorder and microsatellite markers on chromosome 2q (maximum two-point LOD score 4.77;...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human, Pair 2
Share to Genes, Dominant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Linkage

Share to Genetic Markers

Share to Genotype

Share to Ion Channels

Share to Lod Score

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 8659518
PMCID: PMC1915128

Genes

PDC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q.PMID 8659518Read ↗

A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197.Semantic proximity Read ↗

A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q.Semantic proximity Read ↗

A case of familial paroxysmal nonkinesigenic dyskinesia due to mutation of the PNKD gene in Chinese Mainland.Semantic proximity Read ↗

A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16Semantic proximity Read ↗

Mutational analysis of the anion exchanger 3 gene in familial paroxysmal dystonic choreoathetosis linked to chromosome 2q.Semantic proximity Read ↗

Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.Semantic proximity Read ↗

Idiopathic Epilepsy and Paroxysmal DyskinesiaSemantic proximity Read ↗

Novel Locus for Paroxysmal Kinesigenic Dyskinesia Mapped to Chromosome 3q28-29.Semantic proximity Read ↗

Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (<i>EPM2B</i>) on 6p22Semantic proximity Read ↗

A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study.Semantic proximity Read ↗

Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2Semantic proximity Read ↗

A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia.Semantic proximity Read ↗

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