A biallelic mutation in CACNA2D2 associated with epileptic encephalopathy affects calcium channel-dependent as well as synaptic functions of α2δ-2
Sabrin Haddad, Cornelia Ablinger, Ruslan Stanika, Manuel Hessenberger, Marta Campiglio, Nadine J. Ortner, Petronel Tuluc, Gerald J. Obermair · FENS Forum 2024
The roles of auxiliary α2δ subunits of voltage-gated calcium channels (CaVs) in modulating channel membrane expression and calcium current properties are widely recognized. In addition, recent literature suggests an important role of α2δ proteins in synapse formation, differentiation, and synaptic wiring. Therefore, it is not surprising that α2δ proteins have been linked to neurological, neurodevelopmental, and neuropsychiatric disorders. Genetic variants of the α2δ-2 isoform have been associated with epileptic encephalopathy and cerebellar atrophy. In this study we performed a detailed functi
ePoster · Neuroscience