Article

<i>De novo</i> BK channel mutation causes epilepsy by regulating voltage-dependent, but not calcium-dependent, activation

2017-03-25

Abstract excerpt

Epilepsy is one of the most common neurological diseases. Here we report the first de novo mutation in the BK channel (p.N995S) that causes epilepsy in two independent families. The p.N995S mutant channel showed a markedly increased macroscopic potassium current mediated by increases in both channel open probability and channel open dwell time. Mutation p.N995S affects the voltage-activation pathway of BK channel...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: b1b208ed-67b4-502f-a910-978c06c51532
DOI: 10.1101/120543

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

<i>De novo</i> BK channel mutation causes epilepsy by regulating voltage-dependent, but not calcium-dependent, activationDOI 10.1101/120543Read

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

Comparative gain-of-function effects of the KCNMA1-N999S mutation on human BK channel propertiesSemantic proximity Read

Potassium Channels: Molecular Defects, Diseases, and Therapeutic OpportunitiesSemantic proximity Read

Potassium channels: brief overview and implications in epilepsy.Semantic proximity Read

KCNMA1 genotype-phenotype correlation and functional validation of novel sitesSemantic proximity Read

Neuronal mechanism of a BK channelopathy in absence epilepsy and movement disordersSemantic proximity Read

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

The evolutionarily conserved residue A653 plays a key role in HERG channel closing.Semantic proximity Read

Mechanism of increased BK channel activation from a channel mutation that causes epilepsy.Semantic proximity Read

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

Potassium Channels in Epilepsy.Semantic proximity Read

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