Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family

Epileptic Disord. 2010 Jun;12(2):117-24. doi: 10.1684/epd.2010.0311.

Abstract

SCN1A mutations account for a large proportion of Dravet syndrome patients, and are reported in other cases of epilepsy, such as some families with genetic epilepsy with febrile seizures plus (GEFS+). While most Dravet syndrome cases are caused by de novo mutations, 5% inherit a mutation from a mildly affected or symptom-free parent. Parental mosaicism has been identified, with documented cases involving truncating mutations or gene rearrangements. We describe a Roma/Gypsy family, where a missense mutation in SCN1A, p.D194N, is transmitted from a mosaic GEFS+ father to a child with Dravet syndrome. Mosaicism may be more common than assumed and should be considered regardless of the nature of the mutation.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Alleles*
  • Electroencephalography
  • Epilepsy / genetics*
  • Follow-Up Studies
  • Genetic Carrier Screening
  • Humans
  • Male
  • Mosaicism*
  • Mutation, Missense / genetics*
  • NAV1.1 Voltage-Gated Sodium Channel
  • Nerve Tissue Proteins / genetics*
  • Pedigree
  • Phenotype
  • Roma / genetics*
  • Seizures, Febrile / diagnosis
  • Seizures, Febrile / genetics*
  • Signal Processing, Computer-Assisted
  • Sodium Channels / genetics*
  • Syndrome

Substances

  • NAV1.1 Voltage-Gated Sodium Channel
  • Nerve Tissue Proteins
  • SCN1A protein, human
  • Sodium Channels