title: Primary generalized epilepsy during infancy and early childhood.
abstract: The present study delineates a benign generalized epileptic disorder during infancy and early childhood similar to the well-defined syndrome of primary generalized epilepsy in adolescence. The inclusion criteria for the study required infants under the age of 4 years mainly presenting with generalized nonfebrile seizures, requiring corroboration with generalized epileptic discharges on electroencephalograms (EEGs); an unremarkable pregnancy, labor, and perinatal course; a favorable response to antiepilepsy drugs, preferably monotherapy; and a normal cognitive outcome. The clinical features of seizures, EEG correlates, response to medications, developmental outcome, and family history were analyzed. Twenty-five infants fulfilled the inclusion criteria, presenting at ages 4 to 36 months (mean 17 months) with recurrent generalized clonic seizures, which were commonly short-lived, lasting up to 5 minutes; two infants also had status epilepticus. Fourteen infants (56%) had accompanying febrile seizures, which preceded the nonfebrile seizures in 10 of them. A positive family history of seizures was found in 8 (32%) patients. Analysis of the EEG showed generalized epileptiform discharges in the form of 3 to 4 Hz spike-wave and normal background activity in 21 patients (84%), with a photosensitive response induced in 3 children. A larger group of 18 infants promptly responded to therapy, mainly valproic acid, which was terminated after 2 years, along with EEG normalization and no recurrence of seizures. A smaller group of 7 patients require prolonged therapy that keeps them seizure free; the EEG remains paroxysmal, and the seizures could recur when treatment is discontinued. All patients are presently seizure free within a follow-up period of 1.5 to 14 years. Their cognition is normal, but 12 patients have short attention and concentration spans, impulsiveness, and learning difficulties. As such, the data presented here delineate an idiopathic generalized epileptic disorder during infancy with a benign course, a rapid response to therapy, and preservation of cognitive skills that may be added to the current classification of the epileptic syndromes.
authors.affiliation: Child Neurology Unit and Epilepsy Service, Meyer Children's Hospital, Rambam Medical Center, Rappaport School of Medicine, Haifa, Israel. e_shahar@rambam.health.gov.il
authors.forename: Eli
authors.initials: E
authors.lastname: Shahar
authors.forename: Shai
authors.initials: S
authors.lastname: Barak
authors.forename: Jameel
authors.initials: J
authors.lastname: Andraus
authors.forename: Uri
authors.initials: U
authors.lastname: Kramer
mesh_terms: D000927:Anticonvulsants / Q000009:adverse effects / Q000627:therapeutic use; D002675:Child, Preschool; D004359:Drug Therapy, Combination; D004569:Electroencephalography / Q000187:drug effects; D004829:Epilepsy, Generalized / Q000175:diagnosis* / Q000188:drug therapy / Q000209:etiology; D005071:Evoked Potentials / Q000187:drug effects; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008297:Male; D009483:Neuropsychological Tests; D012307:Risk Factors; D055502:Secondary Prevention; D013375:Substance Withdrawal Syndrome / Q000209:etiology; D014635:Valproic Acid / Q000009:adverse effects / Q000627:therapeutic use
chemical_list: D000927:Anticonvulsants; D014635:Valproic Acid