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

Novel pharmacological modulation of dystonic phenotypes caused by a gain-of-function mutation in the Na+ leak-current channel.

Behavioural pharmacology - 1 Aug 2020

Kasap Merve, Aamodt Eric J, Sagrera Caroline E, Dwyer Donard S

Abstract excerpt

The Na leak-current channel (NALCN) regulates the resting membrane potential in excitable cells, thus determining the likelihood of depolarization in response to incoming signals. Gain-of-function (gf) mutations in this channel are associated with severe dystonic movement disorders in man. Currently, there are no known pharmacological antagonists or selective modulators of this important channel. A...

Read the complete abstract on PubMed

Topics

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

Share to Boron Compounds
Share to Caenorhabditis elegans Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dystonia

Share to Gain of Function Mutation

Share to Gene Knockout Techniques

Share to Ion Channels

Share to Nifedipine

Share to Sodium Channels

Source

Identifiers

PMID: 31850963
DOI: 10.1097/FBP.0000000000000526

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Novel pharmacological modulation of dystonic phenotypes caused by a gain-of-function mutation in the Na+ leak-current channel.PMID 31850963Read ↗

Clozapine, nimodipine and endosulfan differentially suppress behavioral defects caused by gain-of-function mutations in a two-pore domain K+ channel (UNC-58).Semantic proximity Read ↗

Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia.Semantic proximity Read ↗

Functional analysis of epilepsy-associated GABAA receptor mutations using Caenorhabditis elegans.Semantic proximity Read ↗

Neurotoxic unc-8 mutants encode constitutively active DEG/ENaC channels that are blocked by divalent cations.Semantic proximity Read ↗

A Genome-Wide RNAi Screen in Caenorhabditis elegans Identifies the Nicotinic Acetylcholine Receptor Subunit ACR-7 as an Antipsychotic Drug TargetSemantic proximity Read ↗

Phenotypic Assessment of Pathogenic Variants in GNAO1 and Response to Caffeine in C. elegans Models of the Disease.Semantic proximity Read ↗

A Gain-of-Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis.Semantic proximity Read ↗

The NALCN regulator UNC-80 functions in a subset of interneurons to affect <i>C. elegans</i> avoidance response to the plant hormone methyl salicylateSemantic proximity Read ↗

Complex Locomotion Behavior Changes Are Induced in Caenorhabditis elegans by the Lack of the Regulatory Leak K+ Channel TWK-7.Semantic proximity Read ↗

Zebrafish as a novel model to assess Na+/K(+)-ATPase-related neurological disorders.Semantic proximity Read ↗

Neuroleptics as therapeutic compounds stabilizing neuromuscular transmission in amyotrophic lateral sclerosisSemantic proximity Read ↗

In vivo identification of genes that modify ether-a-go-go-related gene activity in Caenorhabditis elegans may also affect human cardiac arrhythmia.Semantic proximity Read ↗

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