Ontology highlight
ABSTRACT:
SUBMITTER: Robinson JE
PROVIDER: S-EPMC4854866 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
Robinson J Elliott JE Wolfe Stephanie M SM Kaiser-Rogers Kathleen K Greenwood Robert S RS
Frontiers in neurology 20160504
Hemiconvulsion-hemiplegia-epilepsy syndrome (HHE) is a rare outcome of prolonged hemiconvulsion that is followed by diffuse unilateral hemispheric edema, hemiplegia, and ultimately hemiatrophy of the affected hemisphere and epilepsy. Here, we describe the case of a 3-year-old male with a 1;3 translocation leading to a terminal 1q43q44 deletion and a terminal 3p26.1p26.3 duplication that developed HHE after a prolonged febrile seizure and discuss the pathogenesis of HHE in the context of the pati ...[more]