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Article

A biallelic mutation in CACNA2D2 associated with developmental and epileptic encephalopathy affects calcium channel-dependent as well as synaptic functions of α2δ-2.

Journal of neurochemistry - 1 Jan 2025

Haddad Sabrin, Ablinger Cornelia, Stanika Ruslan, Hessenberger Manuel, Campiglio Marta, Ortner Nadine J, Tuluc Petronel, Obermair Gerald J

Abstract excerpt

α2δ proteins serve as auxiliary subunits of voltage-gated calcium channels and regulate channel membrane expression and current properties. Besides their channel function, α2δ proteins regulate synapse formation, differentiation, and synaptic wiring. Considering these important functions, it is not surprising that CACNA2D1-4, the genes encoding for α2δ-1 to -4 isoforms, have been implicated in neurological,...

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Identifiers

PMID: 39161180
DOI: 10.1111/jnc.16197
PMCID: PMC11657932

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