title: Benign myoclonic epilepsy in infancy followed by childhood absence epilepsy.
abstract: Benign myoclonic epilepsy in infancy (BMEI) is a rare syndrome included among idiopathic generalized epilepsies (IGE) and syndromes with age-related onset. Recently, it has been shown that a few patients with BMEI later had other epilepsy types mainly IGE but never childhood absence epilepsy (CAE). We report a patient who at 11 months of age showed isolated myoclonic jerks occurring several times a day. The ictal video-EEG and polygraphic recording revealed generalized discharge of spike-wave (SW) lasting 1-2s associated with isolated bilateral synchronous jerk involving mainly the upper limbs controlled by valproic acid (VPA). At 6 years and 8 months the child developed a new electroclinical feature recognized as CAE. The ictal EEG disclosed a burst of rhythmic 3 Hz generalized SW. Our case is the first patient with BMEI reported in the literature who later developed a CAE. This finding suggests a common neurobiological and genetic link between different age-related epileptic phenotypes.
authors.affiliation: Dipartimento Materno Infantile, Unità di Neuropsichiatria Infantile, Universita 'di Palermo, Italy. manganos@katamail.com
authors.forename: Salvatore
authors.initials: S
authors.lastname: Mangano
authors.forename: Antonina
authors.initials: A
authors.lastname: Fontana
authors.forename: Chiara
authors.initials: C
authors.lastname: Spitaleri
authors.forename: Giuseppa Renata
authors.initials: GR
authors.lastname: Mangano
authors.forename: Maurizio
authors.initials: M
authors.lastname: Montalto
authors.forename: Federico
authors.initials: F
authors.lastname: Zara
authors.forename: Aldo
authors.initials: A
authors.lastname: Barbagallo
mesh_terms: D000367:Age Factors; D002648:Child; D004831:Epilepsies, Myoclonic / Q000150:complications* / Q000175:diagnosis*; D004832:Epilepsy, Absence / Q000175:diagnosis* / Q000209:etiology*; D005260:Female; D006801:Humans