Article
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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