Maternally derived 15q11.2-q13.1 duplication in a child with Lennox-Gastaut-type epilepsy and dysmorphic features: Clinical-genetic characterization of the family and review of the literature

Am J Med Genet A. 2017 Feb;173(2):556-560. doi: 10.1002/ajmg.a.38039. Epub 2016 Nov 14.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Child
  • Chromosome Duplication*
  • Chromosomes, Human, Pair 15 / chemistry*
  • Comparative Genomic Hybridization
  • Electroencephalography
  • Female
  • Humans
  • Lennox Gastaut Syndrome / diagnostic imaging
  • Lennox Gastaut Syndrome / genetics*
  • Lennox Gastaut Syndrome / pathology
  • Male
  • Maternal Inheritance*
  • Pedigree

Supplementary concepts

  • Epileptic encephalopathy, Lennox-Gastaut type