Idiopathic epilepsy with generalized tonic-clonic seizures only versus idiopathic epilepsy with phantom absences and generalized tonic-clonic seizures: One or two syndromes?

To define the relationship between two syndromes of idiopathic generalized epilepsy (IGE) with apparently similar phenotypes: The form with generalized tonic-clonic seizures only (IGE-GTCS) and that with phantom absences (IGE-PA). We compared the electroclinical features of 33 consecutive patients with GTCS and generalized spike wave (GSW); 18 had only GTCS and were diagnosed as IGE-GTCS, and 15 had hitherto unnoticed mild absences on the electroencephalography (EEG) and were diagnosed as IGE-PA. All patients were subjected to the same diagnostic workout, including video EEG during hyperventilation with breath counting (HBC). Patients with a clinical history of absences or myoclonic seizures were excluded. PA were easily identified with the first or second EEG in 14 of 15 patients with IGE-PA and always with sleep-deprived EEGs; conversely, PA did not occur in the IGE-GTCS patients despite using more EEGs. GTCS were twice as frequent in the IGE-GTCS group and tended to occur on awakening, whereas episodes of absence status affected twice as many patients with IGE-PA. The hereditary risk was 30% in the IGE-GTCS and 6.7% in IGE-PA. GSW had a strong polyspike component in IGE-PA and were briefer in IGE-GTCS. There is no evidence for a maturational influence on the duration of GSW in either syndrome. Our findings clearly indicate that IGE-GTCS and IGE-PA are two distinct IGE syndromes and emphasize the role of PA for patients' diagnosis and management and for syndromic classification. They also appear to validate HBC as a simple, sensitive, and pragmatic method for the clinical identification of typical absences.