Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy

Epilepsy Res. 2003 Oct;56(2-3):127-33. doi: 10.1016/j.eplepsyres.2003.08.007.

Abstract

Myoclonic astatic epilepsy (MAE) is a genetically determined condition of childhood onset characterized by multiple generalized types of seizures including myoclonic astatic seizures, generalized spike waves and cognitive deterioration. This condition has been reported in a few patients in generalized epilepsy with febrile seizures plus (GEFS+) families and MAE has been considered, like severe myoclonic epilepsy of infancy (SMEI), to be a severe phenotype within the GEFS+ spectrum. Four genes have been identified in GEFS+ families, but only three (SCN1A, SCNlB, GABRG2) were found in MAE patients within GEFS+ families. We analysed these three genes in a series of 22 sporadic patients with MAE and found no causal mutations. These findings suggest that MAE, unlike SMEI, is not genetically related to GEFS+. Although MAE and SMEI share the same types of seizures, only SMEI patients are sensitive to fever. This is probably its main link to GEFS+. A different family of genes is likely to account for MAE.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • DNA / genetics
  • Epilepsies, Myoclonic / genetics*
  • Epilepsy, Generalized / genetics*
  • Female
  • Humans
  • Male
  • Mutation
  • NAV1.1 Voltage-Gated Sodium Channel
  • Nerve Tissue Proteins / genetics
  • Polymorphism, Single Nucleotide / genetics
  • Seizures, Febrile / genetics*
  • Sodium Channels / genetics
  • Voltage-Gated Sodium Channel beta-1 Subunit
  • ras Guanine Nucleotide Exchange Factors / genetics*

Substances

  • NAV1.1 Voltage-Gated Sodium Channel
  • Nerve Tissue Proteins
  • SCN1A protein, human
  • SCN1B protein, human
  • Sodium Channels
  • Voltage-Gated Sodium Channel beta-1 Subunit
  • ras Guanine Nucleotide Exchange Factors
  • DNA