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

J Child Neurol. 2015 Jan;30(1):83-6. doi: 10.1177/0883073813516382. Epub 2014 Jan 21.


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.

Keywords: 16p13.11 microdeletion; hemiconvulsion-hemiplegia-epilepsy syndrome; susceptibility loci.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Deletion
  • Chromosome Disorders / complications*
  • Chromosome Disorders / diagnosis
  • Chromosomes, Human, Pair 13
  • Electroencephalography
  • Epilepsy / complications*
  • Epilepsy / diagnosis
  • Female
  • Hemiplegia / complications*
  • Hemiplegia / diagnosis
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Tomography Scanners, X-Ray Computed

Supplementary concepts

  • 13q deletion syndrome