The GEFS+(generalized epilepsy with febrile seizures plus) syndrome was described in 1997 in a large Australian family and is characterized an autosomal dominant transmission of febrile convulsive seizures in infants and young children that may last beyond the age of 6. In some these are associated with afebrile and a variety of other seizures including typical absences, myoclonia-astatia, myoclonia and focal fits. The genetic abnormalities detected to-date, implicate Na channels or GABA receptors.
This paper reports 15 patients identified in a large French family. The index patient was a 15 month-old girl with repeated convulsive, febrile, afebrile, and atonic seizures who became seizure free on valproate. Her neurological status and development were entirely normal and the interictal EEG showed no specific abnormality. In this family all patients had febrile seizures except for 2 who only had afebrile seizures and 2 who had atonic drop-attacks. Tonic seizures during sleep and a secondarily generalized focal hemifacial motor seizure were seen once each. No patient had temporal lobe seizures, myoclonus or typical absences.
The seizure profile in this family appears to be unique and the existence of yet another type of underlying genetic defect is to be expected.
© 2003 Elsevier Masson SAS. Tous droits réservés.