Generalized epilepsy with febrile seizures plus and severe myoclonic epilepsy in infancy: A case report of two Italian families

P. Veggiotti, S. Cardinali, E. Montalenti, A. Gatti, G. Lanzi

Research output: Contribution to journalArticle

Abstract

"Generalized epilepsy with febrile seizures plus" (GEFS+) syndrome has been recently described. This term defines a heterogeneous group of generalized epilepsies observed in several members of large pedigree studies. The syndrome spectrum has been widened by including others forms of generalized epilepsy. We report two Italian families in which the fathers showed febrile seizure plus (FS+), and two sons had severe myoclonic epilepsy of infancy (SMEI). The clinical setting of each epileptic member of the family will be discussed, focusing on the relationship with the GEFS+ group, confirming its wide clinical spectrum. In fact, GEFS+ is different from most other epilepsy syndromes as it is defined not by a set of associated symptoms but by the genetic transmission of a predisposition to febrile convulsions and other seizures, with a variable expression in several members of the same pedigree, perhaps due to ionic channel dysfunction. SMEI could represent the most severe end of the spectrum.

Original languageEnglish
Pages (from-to)29-32
Number of pages4
JournalEpileptic Disorders
Volume3
Issue number1
Publication statusPublished - 2001

Keywords

  • Children
  • Epilepsy
  • Febrile Seizures plus
  • Generalized Epilepsy with Febrile Seizures plus
  • Genetics
  • Severe Myoclonic Epilepsy of Infancy

ASJC Scopus subject areas

  • Clinical Neurology

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