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

Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder.

Nature genetics - 1 Jul 2005

Du Wei, Bautista Jocelyn F, Yang Huanghe, Diez-Sampedro Ana, You Sun-Ah, Wang Lejin, Kotagal Prakash, Lüders Hans O, Shi Jingyi, Cui Jianmin, Richerson George B, Wang Qing K

Abstract excerpt

The large conductance calcium-sensitive potassium (BK) channel is widely expressed in many organs and tissues, but its in vivo physiological functions have not been fully defined. Here we report a genetic locus associated with a human syndrome of coexistent generalized epilepsy and paroxysmal dyskinesia on chromosome 10q22 and show that a mutation of the alpha subunit of the BK channel causes this syndrome. The...

Read the complete abstract on PubMed

Topics

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

Share to Chorea
Share to Chromosomes, Human, Pair 10

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cricetulus

Share to Epilepsy, Generalized

Share to Large-Conductance Calcium-Activated Potassium Channel alpha Subunits

Share to Large-Conductance Calcium-Activated Potassium Channels

Share to Potassium Channels, Calcium-Activated

Share to Xenopus laevis

Source

Identifiers

PMID: 15937479
DOI: 10.1038/ng1585

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

Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder.PMID 15937479Read ↗

{beta} subunit-specific modulations of BK channel function by a mutation associated with epilepsy and dyskinesia.Semantic proximity Read ↗

Mechanism of increased open probability by a mutation of the BK channel.Semantic proximity Read ↗

De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity.Semantic proximity Read ↗

Potassium channelopathies.Semantic proximity Read ↗

<i>KCNMA1</i> -linked channelopathySemantic proximity Read ↗

Evaluation of four KCNMA1 channelopathy variants on BK channel current under CaV1.2 activation.Semantic proximity Read ↗

Functional characterization of KCNMA1 mutation associated with dyskinesia, seizure, developmental delay, and cerebellar atrophy.Semantic proximity Read ↗

Channelopathies: ion channel disorders of muscle as a paradigm for paroxysmal disorders of the nervous system.Semantic proximity Read ↗

Pathomechanisms in channelopathies of skeletal muscle and brain.Semantic proximity Read ↗

Calcium channelopathies.Semantic proximity Read ↗

BK channel properties correlate with neurobehavioral severity in three KCNMA1-linked channelopathy mouse modelsSemantic proximity Read ↗

An epilepsy/dyskinesia-associated mutation enhances BK channel activation by potentiating Ca2+ sensing.Semantic proximity Read ↗

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