16p13.11 microdeletion in a patient with hemiconvulsion-hemiplegia-epilepsy syndrome: a case report.
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.
John Hunter Children's Hospital, New Lambton Heights, New South Wales, Australia christina.miteff@hnehealth.nsw.gov.au.
Christina I
CI
Miteff
John Hunter Children's Hospital, New Lambton Heights, New South Wales, Australia The University of Newcastle, School of Medicine and Public Health, Newcastle, New South Wales, Australia.
Robert L
RL
Smith
Department of Molecular Medicine, Hunter Area Pathology Service, John Hunter Hospital, Rankin Park, Australia.
Nicole L
NL
Bain
John Hunter Children's Hospital, New Lambton Heights, New South Wales, Australia.
Gopinath
G
Subramanian
John Hunter Children's Hospital, New Lambton Heights, New South Wales, Australia.
Janis E
JE
Brown
The University of Newcastle, School of Medicine and Public Health, Newcastle, New South Wales, Australia Hunter Genetics, Newcastle, New South Wales, Australia.
Ben
B
Kamien
D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000150:complications* / Q000175:diagnosis; D002882:Chromosomes, Human, Pair 13; D004569:Electroencephalography; D004827:Epilepsy / Q000150:complications* / Q000175:diagnosis; D005260:Female; D006429:Hemiplegia / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D015898:Tomography Scanners, X-Ray Computed
16p13.11 microdeletion; hemiconvulsion-hemiplegia-epilepsy syndrome; susceptibility loci