title: Idiopathic generalized epilepsy of adolescence: are the syndromes clinically distinct?
abstract: Juvenile myoclonic epilepsy, juvenile absence epilepsy, and epilepsy with generalized tonic-clonic seizures (GTCS) on awakening are the three syndromes of idiopathic generalized epilepsy of adolescent onset currently included in the classification of epilepsy syndromes of the International League Against Epilepsy (ILAE). Although they differ in their predominant seizure types, the syndromes share several clinical features, thus giving rise to questions of phenotypic overlap and purity. We studied the clinical features of 101 patients with idiopathic generalized epilepsy beginning in adolescence. A standardized interview was used to elucidate seizure phenomenology, precipitants, frequency, and response to treatment. Groups defined by seizure type were compared and their similarities examined. The group with myoclonic but not absence seizures (21 patients) corresponded to the ILAE syndrome of juvenile myoclonic epilepsy, whereas those with absences but not myoclonus (37 patients) resembled juvenile absence epilepsy. Twenty-six patients shared the features of juvenile myoclonic epilepsy and juvenile absence epilepsy. Epilepsy with GTCS on awakening was not a specific syndromic entity; 10 patients had this seizure type alone. Seven patients were without a syndromic diagnosis. In these patients only GTCS occurred, but neither on awakening nor in the evening period of relaxation. We conclude that whilst syndromes of idiopathic generalized epilepsy of adolescence can be recognized, the current classification does not include all patients. In addition, the boundaries between the syndromes are indistinct, suggesting underlying neurobiological, possibly genetic, relationships.
authors.affiliation: Department of Neurology, Austin Hospital, Heidelberg (Melbourne), Victoria, Australia.
authors.forename: D C
authors.initials: DC
authors.lastname: Reutens
authors.forename: S F
authors.initials: SF
authors.lastname: Berkovic
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D004831:Epilepsies, Myoclonic / Q000145:classification / Q000150:complications; D004827:Epilepsy / Q000145:classification; D004832:Epilepsy, Absence / Q000145:classification / Q000150:complications; D004829:Epilepsy, Generalized / Q000175:diagnosis* / Q000503:physiopathology / Q000628:therapy; D004830:Epilepsy, Tonic-Clonic / Q000145:classification; D005260:Female; D006801:Humans; D007407:Interviews as Topic; D008297:Male; D013577:Syndrome