Generalized epilepsy with febrile seizures plus and severe myoclonic epilepsy in infancy: a case report of two Italian families.
"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.
Veggiotti
P
P
Child Neuropsychiatry Division, Neurological Institute Casimiro Mondino Foundation IRCCS, V. Palestro 3, 27100 Pavia Italy. pveggiot@unipv.it
Cardinali
S
S
Montalenti
E
E
Gatti
A
A
Lanzi
G
G
D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D004831:Epilepsies, Myoclonic / Q000175:diagnosis* / Q000235:genetics; D004829:Epilepsy, Generalized / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007223:Infant; D007558:Italy; D010375:Pedigree; D003294:Seizures, Febrile / Q000175:diagnosis* / Q000235:genetics