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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.

SUBMITTER: Robinson JE 

PROVIDER: S-EPMC4854866 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature

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Stroke-Like Presentation Following Febrile Seizure in a Patient with 1q43q44 Deletion Syndrome.

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]

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