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
ROHMM-A flexible hidden Markov model framework to detect runs of homozygosity from genotyping data.
Çelik G et al.
Human Mutation, 2022
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
Novel Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotypes.
Mastrangelo M
Pediatric Neurology, 2015
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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