Ontology highlight
ABSTRACT:
SUBMITTER: Butler KM
PROVIDER: S-EPMC6205307 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Butler Kameryn M KM Holt Philip J PJ Milla Sarah S SS da Silva Cristina C Alexander John J JJ Escayg Andrew A
Case reports in genetics 20181015
<i>CACNA2D2</i> encodes an auxiliary subunit of the voltage-dependent calcium channel. To date, there have only been two reports of individuals with early-infantile epileptic encephalopathy due to <i>CACNA2D2</i> mutations. In both reports, patients were homozygous for the identified variants. Here, we report a patient with epileptic encephalopathy and cerebellar atrophy who was found to have two novel variants in the <i>CACNA2D2</i> gene: c.782C>T (p.Pro261Leu) and c.3137T>C (p.Leu1046Pro), by ...[more]