Varaico: Literature-Extracted Genetic Variants

Gene:CACNA2D2
Variant:p.N432fs
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CACNA2D2

NM_006030.4:p.N432fs

Associated Papers

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

Haddad S et al.

Journal of Neurochemistry, 2025

Pathophysiological Roles of Auxiliary Calcium Channel α2δ Subunits.

Hessenberger M et al.

Handbook of Experimental Pharmacology, 2023

Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy.

Punetha J et al.

Annals of Clinical and Translational Neurology, 2019

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.

Pippucci T et al.

Plos One, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."