title: Eating-induced epileptic spasms in a boy with MECP2 duplication syndrome: insights into pathogenesis of genetic epilepsies.
abstract: Duplication of MECP2 causes a recently described X-linked mental retardation syndrome, of which the typical features are infantile hypotonia, poor speech development, recurrent infections, epilepsy, and progressive spasticity. Recently, the associated seizure semiology and interictal EEG features have been increasingly described, whereas ictal electroclinical features remain poorly defined. We report the case of a boy carrying a maternally-inherited MECP2 duplication and describe the video-EEG sequence of a cluster of eating-induced spasms, the only epileptic manifestation of the patient. This report expands our knowledge of the epileptic phenotype of MECP2 duplication syndrome and may contribute to a better definition and comprehension of the electroclinical spectrum of patients affected by this disease. It also supports the hypothesis that in some genetic epilepsies, the electro-clinical profile can correlate with the dysfunction of limited cortical regions despite the presence of a genetic mutation over the entire brain. [Published with video sequences].
authors.affiliation: Department of Women's and Children's Health, University of Padua, Padua, Italy. lucadepalma@alice.it
authors.forename: Luca
authors.initials: L
authors.lastname: de Palma
authors.forename: Clementina
authors.initials: C
authors.lastname: Boniver
authors.forename: Matteo
authors.initials: M
authors.lastname: Cassina
authors.forename: Irene
authors.initials: I
authors.lastname: Toldo
authors.forename: Margherita
authors.initials: M
authors.lastname: Nosadini
authors.forename: Maurizio
authors.initials: M
authors.lastname: Clementi
authors.forename: Stefano
authors.initials: S
authors.lastname: Sartori
mesh_terms: D001921:Brain / Q000503:physiopathology*; D002648:Child; D055028:Comparative Genomic Hybridization; D004435:Eating; D004569:Electroencephalography; D020195:Epilepsy, Reflex / Q000209:etiology* / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D008297:Male; D038901:X-Linked Intellectual Disability / Q000150:complications* / Q000503:physiopathology; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2