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Article

Novel Missense CACNA1G Mutations Associated with Infantile-Onset Developmental and Epileptic Encephalopathy.

International journal of molecular sciences - 31 Aug 2020

Berecki Géza, Helbig Katherine L, Ware Tyson L, Grinton Bronwyn, Skraban Cara M, Marsh Eric D, Berkovic Samuel F, Petrou Steven

Abstract excerpt

The CACNA1G gene encodes the low-voltage-activated Cav3.1 channel, which is expressed in various areas of the CNS, including the cerebellum. We studied two missense CACNA1G variants, p.L208P and p.L909F, and evaluated the relationships between the severity of Cav3.1 dysfunction and the clinical phenotype. The presentation was of a developmental and epileptic encephalopathy without evident cerebellar atrophy. Both...

Topics

Calcium Channels, T-Type
Developmental Disabilities
Female
Humans
Male
Mutation, Missense
Phenotype
Spasms, Infantile

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 32878331
DOI: 10.3390/ijms21176333
PMCID: PMC7503748

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

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