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Benign myoclonic epilepsy in infancy followed by childhood absence epilepsy
Authors:Salvatore Mangano  Antonina Fontana  Chiara Spitaleri  Giuseppa Renata Mangano  Maurizio Montalto  Federico Zara  Aldo Barbagallo
Affiliation:aDipartimento Materno Infantile, Unità di Neuropsichiatria Infantile, Universita ‘di Palermo, Italy;bDipartimento di Psicologia, Università di Palermo, Italy;cUnità Operativa di Medicina del Sonno in Età Evolutiva, A.O. Ospedali Riuniti “Villa Sofia-Cervello”, Palermo, Italy;dUnità Operativa di Neurogenetica, Dipartimento di Pediatria, Ospedale Gaslini, Genova, Italy;eUnità Operativa di Neuropsichiatria Infantile, ASP Palermo, Italy
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 1–2 s 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.
Keywords:Myoclonic epilepsy   Epilepsy in infancy   Idiopathic epilepsy   Childhood absence epilepsy
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