AUTHOR=Robinson J. Elliott , Wolfe Stephanie M. , Kaiser-Rogers Kathleen , Greenwood Robert S. TITLE=Stroke-Like Presentation Following Febrile Seizure in a Patient with 1q43q44 Deletion Syndrome JOURNAL=Frontiers in Neurology VOLUME=7 YEAR=2016 URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2016.00067 DOI=10.3389/fneur.2016.00067 ISSN=1664-2295 ABSTRACT=

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 patient’s complex genetic background.