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Article

Biallelic <i>CACNA2D1</i> loss-of-function variants cause early-onset developmental epileptic encephalopathy

25 Feb 2022

Abstract excerpt

Voltage-gated calcium (CaV) channels form three subfamilies (CaV1-3). The CaV1 and CaV2 channels are heteromeric, consisting of an α1 pore-forming subunit, associated with auxiliary CaVβ and α2δ subunits. The α2δ subunits are encoded in mammals by four genes, CACNA2D1-4. They play important roles in trafficking and function of the CaV channel complexes. Here we report biallelic variants in CACNA2D1, encoding the...

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PMID: 35293990
DOI: 10.1093/brain/awac081

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