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Article

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

European journal of medical genetics - 1 Jul 2026

Selek Ayberk, Orpay Furkan, Unay Bülent

Abstract excerpt

CACNA1G encodes the Cav3.1 T-type calcium channel, a key regulator of neuronal excitability and thalamocortical rhythmicity. Pathogenic variants have been associated with neurodevelopmental disorders, frequently accompanied by epilepsy and cerebellar abnormalities. We report a patient with global developmental delay and autism spectrum disorder who developed progressive gait instability and was found to harbor a...

Topics

Humans
Calcium Channels, T-Type
Cerebellum
Developmental Disabilities
Nervous System Malformations
Neurodevelopmental Disorders
Phenotype

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 42309484
DOI: 10.1016/j.ejmg.2026.105088

Genes

CACNA1G

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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A novel de novo CACNA1G variant p.(Arg1553Gln) associated with neurodevelopmental delay and cerebellar hypoplasia: Expanding the phenotypic spectrum.PMID 42309484Read ↗

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

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Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental DelaySemantic proximity Read ↗

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