title: Emotion-induced myoclonic absence-like seizures in a patient with inv-dup(15) syndrome: a clinical, EEG, and molecular genetic study.
abstract: We have described a clinical EEG and molecular genetic study of a 9-year-old boy with inv-dup(15) syndrome in whom seizures were induced by emotionally gratifying stimuli. The reflex seizures began 5-20 s after the onset of repeated cheek-kissing from his mother or after viewing of pleasant or funny events. They were characterized by bilateral discharges involving mainly the temporal regions and evolving into myoclonic absence-like seizures. Nonemotional stimuli, such as a pinch, sucking or rubbing his cheeks, or the sound of the kiss alone, failed to provoke seizures. The seizures were resistant to antiepileptic (AED) treatments. Molecular genetic investigations revealed a correct methylation pattern of the chromosomes 15, and three copies (two maternal and one paternal) of the segment 15q11-q13, including the GABRb3 gene. We hypothesize that an overexpression of cerebral gamma-aminobutyric acid (GABA)-mediated inhibition accounts for the severe epilepsy that we observed in this patient.
authors.affiliation: Department of Medical Sciences, School of Medicine, University of Catanzaro, Italy. aguglia.unicz@interbusiness.it
authors.forename: U
authors.initials: U
authors.lastname: Aguglia
authors.forename: E
authors.initials: E
authors.lastname: Le Piane
authors.forename: A
authors.initials: A
authors.lastname: Gambardella
authors.forename: D
authors.initials: D
authors.lastname: Messina
authors.forename: C
authors.initials: C
authors.lastname: Russo
authors.forename: S M
authors.initials: SM
authors.lastname: Sirchia
authors.forename: G
authors.initials: G
authors.lastname: Porta
authors.forename: A
authors.initials: A
authors.lastname: Quattrone
mesh_terms: D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D007446:Chromosome Inversion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D004569:Electroencephalography / Q000706:statistics & numerical data; D004644:Emotions / Q000502:physiology*; D004831:Epilepsies, Myoclonic / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D004832:Epilepsy, Absence / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D020440:Gene Duplication; D006801:Humans; D008297:Male; D018079:Receptors, GABA / Q000235:genetics* / Q000502:physiology
chemical_list: D018079:Receptors, GABA