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
Calcium channelopathies and intellectual disability: a systematic review.
Kessi M et al.
Orphanet Journal of Rare Diseases, 2021
Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy.
Punetha J et al.
Annals of Clinical and Translational Neurology, 2019
Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous CACNA2D2 Variants.
Butler KM et al.
Case Reports in Genetics, 2018
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