The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.

doi:10.1016/j.gim.2024.101337

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

Community

Back to search

Article

The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2025

Qebibo Leila, Davakan Amaël, Nesson-Dauphin Mathilde, Boulali Najlae, Siquier-Pernet Karine, Afenjar Alexandra, Amiel Jeanne, Bartholdi Deborah, Barth Magalie, Blondiaux Eléonore, Cristian Ingrid, Frazier Zoe, Goldenberg Alice, Good Jean-Marc, Salussolia Catherine Lourdes, Sahin Mustafa, McCullagh Helen, McDonald Kimberly, McRae Anne, Morrison Jennifer, Pinner Jason, Shinawi Marwan, Toutain Annick, Vyhnálková Emílie, Wheeler Patricia G, Wilnai Yael, Hausman-Kedem Moran, Coolen Marion, Cantagrel Vincent, Burglen Lydie, Lory Philippe

Abstract excerpt

PURPOSE: Missense de novo variants in CACNA1G, which encodes the Cav3.1 T-type calcium channel, have been associated with a severe, early-onset form of cerebellar disorder with neurodevelopmental deficits (SCA42ND). We explored a large series of pediatric cases carrying heterozygous variants in CACNA1G to further characterize genotype-phenotype correlations in SCA42ND. METHODS: We describe 19 patients with...

Read the complete abstract on PubMed

Topics

Humans
Calcium Channels, T-Type

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Female

Male

Child

Phenotype

Mutation, Missense

Child, Preschool

Adolescent

Genetic Association Studies

Neurodevelopmental Disorders

Heterozygote

Spinocerebellar Ataxias

Infant

Source

Open in PubMed

Identifiers

PMID: 39674904
DOI: 10.1016/j.gim.2024.101337

Genes

CACNA1G

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 18 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.PMID 39674904Read ↗

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 ↗

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.Semantic proximity Read ↗

De novo CACNA1G variants in developmental delay and early-onset epileptic encephalopathies.Semantic proximity Read ↗

Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurodevelopmental disorder.Semantic proximity Read ↗

A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia.Semantic proximity Read ↗

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.Semantic proximity Read ↗

Functional characterization of a novel de novo CACNA1C pathogenic variant in a patient with neurodevelopmental disorder.Semantic proximity Read ↗

CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders.Semantic proximity Read ↗

From Genotype to Phenotype: Expanding the Clinical Spectrum of CACNA1A Variants in the Era of Next Generation SequencingSemantic proximity Read ↗

De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy.Semantic proximity Read ↗

CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings.Semantic proximity Read ↗

A novel de novo CACNA1G variant p.(Arg1553Gln) associated with neurodevelopmental delay and cerebellar hypoplasia: Expanding the phenotypic spectrum.Semantic proximity Read ↗

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