16p13.11 microdeletion in a patient with hemiconvulsion-hemiplegia-epilepsy syndrome: a case report.

JOURNAL OF CHILD NEUROLOGY(2015)

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摘要
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.
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关键词
hemiconvulsion-hemiplegia-epilepsy syndrome,16p13,11 microdeletion,susceptibility loci
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