Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy.
Jaya PunethaEnder KaracaAlper GezdiriciRyan E LamontDavut PehlivanDana MarafiJuan Pablo AppendinoJill V HunterZeynep C AkdemirJawid M FatihShalini N JhangianiRichard A GibbsA Micheil InnesJennifer E PoseyJames R LupskiPublished in: Annals of clinical and translational neurology (2019)
Our study supports the candidacy of CACNA2D2 as a disease gene associated with a phenotypic spectrum of neurological disease that include features of developmental and epileptic encephalopathy, ataxia, and cerebellar atrophy. Age at presentation may affect apparent penetrance of neurogenetic trait manifestations and of a particular clinical neurological endophenotype, for example, seizures or ataxia.