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CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders.

Brain : a journal of neurology - 17 Aug 2021

El Ghaleb Yousra, Schneeberger Pauline E, Fernández-Quintero Monica L, Geisler Stefanie M, Pelizzari Simone, Polstra Abeltje M, van Hagen Johanna M, Denecke Jonas, Campiglio Marta, Liedl Klaus R, Stevens Cathy A, Person Richard E, Rentas Stefan, Marsh Eric D, Conlin Laura K, Tuluc Petronel, Kutsche Kerstin, Flucher Bernhard E

Abstract excerpt

T-type calcium channels (Cav3.1 to Cav3.3) regulate low-threshold calcium spikes, burst firing and rhythmic oscillations of neurons and are involved in sensory processing, sleep, and hormone and neurotransmitter release. Here, we examined four heterozygous missense variants in CACNA1I, encoding the Cav3.3 channel, in patients with variable neurodevelopmental phenotypes. The p.(Ile860Met) variant, affecting a...

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Calcium Channels
Computer Simulation
Gain of Function Mutation
Ion Channel Gating

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Models, Neurological

Mutation, Missense

Neurodevelopmental Disorders

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Identifiers

PMID: 33704440
DOI: 10.1093/brain/awab101
PMCID: PMC8422349

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

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