Partial deletion of DEPDC5 in a child with focal epilepsy.

ABSTRACT: We report on a child, aged 4^7/12 years, with borderline intelligence quotient, normal brain magnetic resonance imaging, and focal epilepsy. The polysomnographic electroencephalogram recording revealed asynchronous central spikes at both brain hemispheres resembling the features observed in focal idiopathic epileptic syndromes. Array comparative genomic hybridization analysis revealed a 32-kb partial deletion of the DEP domain-containing protein 5 (DEPDC5) gene, involved in a wide spectrum of inherited focal epileptic syndromes. The parental origin of the deletion could not be fully ascertained because the pregnancy had been achieved through anonymous egg donation and insemination by intracytoplasmic sperm injection. However, we demonstrate that the deletion, shared by all

SUBMITTER: Bonaglia MC 

PROVIDER: S-EPMC5719828 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature