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

R. Nabbout, A. Kozlovski, E. Gennaro, N. Bahi-Buisson, F. Zara, C. Chiron, A. Bianchi, A. Brice, E. Leguern, O. Dulac

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)127-133
Number of pages7
JournalEpilepsy Research
Volume56
Issue number2-3
DOIs
Publication statusPublished - Oct 2003

Keywords

  • GABRG2
  • GEFS+
  • Myoclonic astatic epilepsy
  • SCN1A
  • SCN1B

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Neurology

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