title: Stroke-Like Presentation Following Febrile Seizure in a Patient with 1q43q44 Deletion Syndrome.
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.
authors.affiliation: School of Medicine, University of North Carolina School of Medicine , Chapel Hill, NC , USA.
authors.forename: J Elliott
authors.initials: JE
authors.lastname: Robinson
authors.affiliation: School of Medicine, University of North Carolina School of Medicine, Chapel Hill, NC, USA; Division of Child Neurology, Department of Neurology, University of North Carolina School of Medicine, Chapel Hill, NC, USA.
authors.forename: Stephanie M
authors.initials: SM
authors.lastname: Wolfe
authors.affiliation: School of Medicine, University of North Carolina School of Medicine, Chapel Hill, NC, USA; Department of Pathology and Laboratory Medicine, University of North Carolina School of Medicine, Chapel Hill, NC, USA.
authors.forename: Kathleen
authors.initials: K
authors.lastname: Kaiser-Rogers
authors.affiliation: School of Medicine, University of North Carolina School of Medicine, Chapel Hill, NC, USA; Division of Child Neurology, Department of Neurology, University of North Carolina School of Medicine, Chapel Hill, NC, USA.
authors.forename: Robert S
authors.initials: RS
authors.lastname: Greenwood
keywords: 1q43q44 deletion; COX20; FAM36A; hemiconvulsion–hemiparesis–epilepsy; mitochondrial