6533b872fe1ef96bd12d43ee

RESEARCH PRODUCT

Benign myoclonic epilepsy in infancy followed by childhood absence epilepsy

Barbagallo AGiuseppa Renata ManganoMaurizio MontaltoFederico ZaraC. SpitaleriAntonina FontanaSalvatore Mangano

subject

Pediatricsmedicine.medical_specialtyMyoclonic JerkClinical NeurologyEpilepsies MyoclonicEpilepsiesChildhood absence epilepsyEpilepsyChildhood absence epilepsyEpilepsy in infancySettore M-PSI/08 - Psicologia ClinicaHumansMedicineRare syndromeIctalMyoclonic epilepsy Epilepsy in infancy Idiopathic epilepsy Childhood absence epilepsyChildValproic AcidEpilepsybusiness.industryIdiopathic epilepsyAge FactorsIctal eegGeneral Medicinemedicine.diseaseChildhood absence epilepsy; Epilepsy in infancy; Idiopathic epilepsy; Myoclonic epilepsy; Age Factors; Child; Epilepsies Myoclonic; Epilepsy Absence; Female; HumansSettore MED/39 - Neuropsichiatria InfantileAbsenceEpilepsy AbsenceNeurologyAnesthesiaMyoclonic epilepsyMyoclonic epilepsyFemaleNeurology (clinical)Myoclonicbusinessmedicine.drug

description

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 3Hz 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.

yearjournalcountryeditionlanguage
2011-11-01Seizure
https://doi.org/10.1016/j.seizure.2011.06.008