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 journalArticle

26 Citations (Scopus)

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

Fingerprint

Myoclonic Epilepsy
Mutation
Genes
Seizures
Fever

Keywords

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

ASJC Scopus subject areas

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

Cite this

Nabbout, R., Kozlovski, A., Gennaro, E., Bahi-Buisson, N., Zara, F., Chiron, C., ... Dulac, O. (2003). Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy. Epilepsy Research, 56(2-3), 127-133. https://doi.org/10.1016/j.eplepsyres.2003.08.007

Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy. / Nabbout, R.; Kozlovski, A.; Gennaro, E.; Bahi-Buisson, N.; Zara, F.; Chiron, C.; Bianchi, A.; Brice, A.; Leguern, E.; Dulac, O.

In: Epilepsy Research, Vol. 56, No. 2-3, 10.2003, p. 127-133.

Research output: Contribution to journalArticle

Nabbout, R, Kozlovski, A, Gennaro, E, Bahi-Buisson, N, Zara, F, Chiron, C, Bianchi, A, Brice, A, Leguern, E & Dulac, O 2003, 'Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy', Epilepsy Research, vol. 56, no. 2-3, pp. 127-133. https://doi.org/10.1016/j.eplepsyres.2003.08.007
Nabbout R, Kozlovski A, Gennaro E, Bahi-Buisson N, Zara F, Chiron C et al. Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy. Epilepsy Research. 2003 Oct;56(2-3):127-133. https://doi.org/10.1016/j.eplepsyres.2003.08.007
Nabbout, R. ; Kozlovski, A. ; Gennaro, E. ; Bahi-Buisson, N. ; Zara, F. ; Chiron, C. ; Bianchi, A. ; Brice, A. ; Leguern, E. ; Dulac, O. / Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy. In: Epilepsy Research. 2003 ; Vol. 56, No. 2-3. pp. 127-133.
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