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
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.
Wei F et al.
Neuroscience Bulletin, 2017
In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery.
Oliver KL et al.
Neurology. Genetics, 2016
27066588 (PubMed )
Supplement: supp_2.1.e51_table_e-2.xlsx › table_e-2
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy.
Edvardson S et al.
Journal of Medical Genetics, 2013
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