16p13.11 Microdeletion in a Patient With Hemiconvulsion-Hemiplegia-Epilepsy Syndrome: A Case Report. (January 2015)

• Record Type: Journal Article
• Authors: Miteff, Christina I.; Smith, Robert L.; Bain, Nicole L.; Subramanian, Gopinath; Brown, Janis E.; Kamien, Ben
• Is Part Of: Journal of child neurology. Volume 30:Number 1(2015:Jan.)
• Page Start: 83
• Page End: 86
• Publication Date: 2015-01
• Subjects: hemiconvulsion-hemiplegia-epilepsy syndrome -- 16p13.11 microdeletion -- susceptibility loci; Nervous system -- Diseases -- Periodicals; 618.928
• DOI: 10.1177/0883073813516382
• Languages: English
• ISSNs: 0883-0738

Abstract

We describe a patient with hemiconvulsion-hemiplegia-epilepsy syndrome. The pathophysiology of hemiconvulsion-hemiplegia-epilepsy syndrome remains uncertain and there are probably multiple potential contributing factors. Our patient had a chromosomal 16p13.11 microdeletion that confers susceptibility to various types of epilepsy. This is the first report detailing an association of hemiconvulsion-hemiplegia-epilepsy syndrome with a 16p13.11 deletion and identifies another potential causal factor for hemiconvulsion-hemiplegia-epilepsy syndrome.