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

Episodic ataxia type-1 mutations in the hKv1.1 cytoplasmic pore region alter the gating properties of the channel.

The EMBO journal - 2 Mar 1998

D'Adamo M C, Liu Z, Adelman J P, Maylie J, Pessia M

Abstract excerpt

Episodic ataxia type-1 is a rare human neurological syndrome which occurs during childhood and persists through the whole life of affected patients. Several heterozygous point mutations have been found in the coding sequence of the voltage-gated potassium channel gene hKv1.1 of different affected families. V408A and E325D mutations are located in the cytoplasmic putative pore region of hKv1.1 channels and...

Read the complete abstract on PubMed

Topics

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

Share to Cytoplasm
Share to Dimerization
Share to DNA, Complementary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Kinetics

Share to Mutation

Share to Oocytes

Share to Protein Conformation

Share to RNA, Messenger

Source

Open in PubMed Open full text

Identifiers

PMID: 9482717
DOI: 10.1093/emboj/17.5.1200
PMCID: PMC1170468

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

Episodic ataxia type-1 mutations in the hKv1.1 cytoplasmic pore region alter the gating properties of the channel.PMID 9482717Read ↗

Episodic ataxia type 1 mutations in the human Kv1.1 potassium channel alter hKvbeta 1-induced N-type inactivation.Semantic proximity Read ↗

Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium channels Kv1.4-1.1/Kvbeta1.1 and Kv1.4-1.1/Kvbeta1.2.Semantic proximity Read ↗

Mutations in the KCNA1 gene associated with episodic ataxia type-1 syndrome impair heteromeric voltage-gated K(+) channel function.Semantic proximity Read ↗

Functional characterization of an episodic ataxia type-1 mutation occurring in the S1 segment of hKv1.1 channels.Semantic proximity Read ↗

Characterization of three episodic ataxia mutations in the human Kv1.1 potassium channel.Semantic proximity Read ↗

A Common Kinetic Property of Mutations Linked to Episodic Ataxia Type 1 Studied in the Shaker Kv Channel.Semantic proximity Read ↗

Clinical and Functional Study of a De Novo Variant in the PVP Motif of Kv1.1 Channel Associated with Epilepsy, Developmental Delay and Ataxia.Semantic proximity Read ↗

Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches.Semantic proximity Read ↗

Mechanism of accelerated current decay caused by an episodic ataxia type-1-associated mutant in a potassium channel pore.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 ↗

Episodic ataxia type 1: a neuronal potassium channelopathy.Semantic proximity Read ↗

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

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