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

Splice-variant specific effects of a CACNA1H mutation associated with writer’s cramp

20 Sept 2021

Abstract excerpt

Abstract The CACNA1H gene encodes the α1 subunit of the low voltage-activated Cav3.2 T-type calcium channel, an important regulator of neuronal excitability. Alternative mRNA splicing can generate multiple channel variants with distinct biophysical properties and expression patterns. Two major splice variants, containing or lacking exon 26 (± 26) have been found in different human tissues. In this study, we...

Read the complete abstract on PubMed

Topics

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

Share to Cardiac electrophysiology and arrhythmias
Share to Genetic Neurodegenerative Diseases
Share to Ion channel regulation and function

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 34544471
DOI: 10.1186/s13041-021-00861-z

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Splice-variant specific effects of a CACNA1H mutation associated with writer’s crampPMID 34544471Read ↗

Rare functional missense variants in CACNA1H: What can we learn from Writer's cramp?Semantic proximity Read ↗

A structural analysis of the splice-specific functional impact of the pathogenic familial hemiplegic migraine type 1 S218L mutation on Cav2.1 P/Q-type channel gating.Semantic proximity Read ↗

A profile of alternative RNA splicing and transcript variation of CACNA1H, a human T-channel gene candidate for idiopathic generalized epilepsies.Semantic proximity Read ↗

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

CACNA1B mutation is linked to unique myoclonus-dystonia syndrome.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 ↗

Ca(V)2.1 P/Q-type calcium channel alternative splicing affects the functional impact of familial hemiplegic migraine mutations: implications for calcium channelopathies.Semantic proximity Read ↗

Novel CACNA1A Variant p.Cys256Phe Disrupts Disulfide Bonds and Causes Spinocerebellar Ataxia.Semantic proximity Read ↗

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

The impact of splice isoforms on voltage-gated calcium channel alpha1 subunits.Semantic proximity Read ↗

Developmental and cell-specific expression of <i>Cacna1d</i> splice variantsSemantic proximity Read ↗

Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM.Semantic proximity Read ↗

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