Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy.

ABSTRACT:

Objective

To characterize the molecular and clinical phenotypic basis of developmental and epileptic encephalopathies caused by rare biallelic variants in CACNA2D2.

Methods

Two affected individuals from a family with clinical features of early onset epileptic encephalopathy were recruited for exome sequencing at the Centers for Mendelian Genomics to identify their molecular diagnosis. GeneMatcher facilitated identification of a second family with a shared candidate disease gene identified through clinical gene panel-based testing.

Results

Rare biallelic CACNA2D2 variants have been previously reported in three families with developmental and epileptic encephalopathy, and one family with congenital ataxia. We identified three individuals in two unrelated families with n

SUBMITTER: Punetha J 

PROVIDER: S-EPMC6689679 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature