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

Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins.

Neurology - 27 Jul 2010

Graves T D, Rajakulendran S, Zuberi S M, Morris H R, Schorge S, Hanna M G, Kullmann D M

Abstract excerpt

OBJECTIVE: Episodic ataxia type 1 (EA1) is a monogenic channelopathy caused by mutations of the potassium channel gene KCNA1. Affected individuals carrying the same mutation can exhibit considerable variability in the severity of ataxia, neuromyotonia, and other associated features. We investigated the phenotypic heterogeneity of EA1 in 2 sets of identical twins to determine the contribution of environmental...

Read the complete abstract on PubMed

Topics

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

Share to Ataxia
Share to Child, Preschool
Share to Epilepsy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family Health

Share to Kv1.1 Potassium Channel

Share to Pedigree

Share to Severity of Illness Index

Share to Twins, Monozygotic

Source

Open in PubMed Open full text

Identifiers

PMID: 20660867
DOI: 10.1212/WNL.0b013e3181ea9ee3
PMCID: PMC2918890

Genes

KCNA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins.PMID 20660867Read ↗

Two novel KCNA1 variants identified in two unrelated Chinese families affected by episodic ataxia type 1 and neurodevelopmental disorders.Semantic proximity Read ↗

Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity.Semantic proximity Read ↗

Novel Genetic Variants Expand the Functional, Molecular, and Pathological Diversity of KCNA1 Channelopathy.Semantic proximity Read ↗

Novel Genetic Variants Expand the Functional, Molecular and Pathological Diversity of KCNA1 ChannelopathySemantic proximity Read ↗

Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations.Semantic proximity Read ↗

A novel mutation in KCNA1 causes episodic ataxia without myokymiaSemantic proximity Read ↗

Novel phenotype associated with a mutation in the KCNA1(Kv1.1) geneSemantic proximity Read ↗

Variable K(+) channel subunit dysfunction in inherited mutations of KCNA1.Semantic proximity Read ↗

Characterization of the Kv1.1 I262T and S342I mutations associated with episodic ataxia 1 with distinct phenotypes.Semantic proximity Read ↗

Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability.Semantic proximity Read ↗

Episodic ataxia mutations in Kv1.1 alter potassium channel function by dominant negative effects or haploinsufficiency.Semantic proximity Read ↗

A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy.Semantic proximity Read ↗

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