Mosaic chromosome 5p tetrasomy: eye closure-induced seizures in a rare neurocutaneous syndrome

Acta Neurol Belg. 2020 Jun;120(3):713-716. doi: 10.1007/s13760-019-01183-7. Epub 2019 Jul 10.
No abstract available

Keywords: Chromosomal mosaicism; Developmental delay; Isochromosome 5p; Seizures; Tetrasomy 5p.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child
  • Chromosomes, Human, Pair 5 / genetics*
  • Electroencephalography
  • Female
  • Humans
  • Neurocutaneous Syndromes / diagnosis
  • Neurocutaneous Syndromes / genetics*
  • Neurocutaneous Syndromes / physiopathology
  • Ocular Physiological Phenomena*
  • Seizures / diagnosis
  • Seizures / etiology
  • Seizures / genetics*
  • Tetrasomy / genetics*