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

A CACNA1A variant associated with trigeminal neuralgia alters the gating of Cav2.1 channels.

Molecular brain - 7 Jan 2021

Gambeta Eder, Gandini Maria A, Souza Ivana A, Ferron Laurent, Zamponi Gerald W

Abstract excerpt

A novel missense mutation in the CACNA1A gene that encodes the pore forming α1 subunit of the CaV2.1 voltage-gated calcium channel was identified in a patient with trigeminal neuralgia. This mutation leads to a substitution of proline 2455 by histidine (P2455H) in the distal C-terminus region of the channel. Due to the well characterized role of this channel in neurotransmitter release, our aim was to...

Read the complete abstract on PubMed

Topics

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

Share to Calcium Channels
Share to Cell Line
Share to Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Genetic Variation

Share to Ion Channel Gating

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 33413531
DOI: 10.1186/s13041-020-00725-y
PMCID: PMC7789175

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A CACNA1A variant associated with trigeminal neuralgia alters the gating of Cav2.1 channels.PMID 33413531Read ↗

Electrophysiological characterization of a CaV3.1 calcium channel mutation linked to trigeminal neuralgia.Semantic proximity Read ↗

A Gain-of-Function Mutation in Nav1.6 in a Case of Trigeminal NeuralgiaSemantic proximity Read ↗

The hemiplegic migraine-associated Y1245C mutation in CACNA1A results in a gain of channel function due to its effect on the voltage sensor and G-protein-mediated inhibition.Semantic proximity Read ↗

Complex effects on CaV2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorderSemantic proximity Read ↗

Mutations in the Voltage Dependent Calcium Channel CACNA1A (P/Q type alpha 1A subunit) Causing Neurological Disorders - An Overview.Semantic proximity Read ↗

Effects of familial hemiplegic migraine type 1 mutation T666M on voltage-gated calcium channel activities in trigeminal ganglion neurons.Semantic proximity Read ↗

A mutation in the first intracellular loop of CACNA1A prevents P/Q channel modulation by SNARE proteins and lowers exocytosis.Semantic proximity Read ↗

Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal NeuralgiaSemantic proximity Read ↗

A CACNA1C variant associated with reduced voltage-dependent inactivation, increased CaV1.2 channel window current, and arrhythmogenesis.Semantic proximity Read ↗

The de novo CACNA1A pathogenic variant Y1384C associated with hemiplegic migraine, early onset cerebellar atrophy and developmental delay leads to a loss of Cav2.1 channel function.Semantic proximity Read ↗

A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation.Semantic proximity Read ↗

A TRPM7 mutation linked to familial trigeminal neuralgia: Omega current and hyperexcitability of trigeminal ganglion neurons.Semantic proximity Read ↗

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