Ontology highlight
ABSTRACT:
SUBMITTER: Bonaglia MC
PROVIDER: S-EPMC5719828 | biostudies-literature | 2016 Dec
REPOSITORIES: biostudies-literature
Bonaglia Maria Clara MC Giorda Roberto R Epifanio Roberta R Bertuzzo Sara S Marelli Susan S Gerard Marion M Andrieux Joris J Zanotta Nicoletta N Zucca Claudio C
Epilepsia open 20160825 3-4
We report on a child, aged 4<sup>7/12</sup> 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 (<i>DEPDC5</i>) gene, involved in a wi ...[more]