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

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

Pflugers Archiv : European journal of physiology - 1 Jun 2003

Imbrici Paola, Cusimano Antonella, D'Adamo Maria Cristina, De Curtis Amalia, Pessia Mauro

Abstract excerpt

Voltage-gated potassium channels (Kv) play important roles in neurotransmission, nerve cell excitability and disease. Several missense mutations in the Kv1.1 gene have been associated with episodic ataxia type-1 syndrome (EA-1), which is characterized by continuous myokymia, episodic attacks of ataxic gait and spastic contractions of skeletal muscles. In this study we show that I177N, an EA-1 mutation located in...

Read the complete abstract on PubMed

Topics

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

Share to Asparagine
Share to Biophysical Phenomena

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Biophysics

Share to Cerebellar Ataxia

Share to Electric Conductivity

Share to Isoleucine

Share to Kv1.1 Potassium Channel

Share to Potassium Channels, Voltage-Gated

Source

Identifiers

PMID: 12799903
DOI: 10.1007/s00424-002-0962-2

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

Functional characterization of an episodic ataxia type-1 mutation occurring in the S1 segment of hKv1.1 channels.PMID 12799903Read ↗

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

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

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

Episodic ataxia/myokymia mutations functionally expressed in the Shaker potassium channel.Semantic proximity Read ↗

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

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