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.

Emotion-induced myoclonic absence-like seizures in a patient with inv-dup(15) syndrome : a clinical, EEG, and molecular genetic study / U. Aguglia, E. Le Piane, A. Gambardella, D. Messina, C. Russo, S.M. Sirchia, G. Porta, A. Quattrone. - In: EPILEPSIA. - ISSN 0013-9580. - 40:9(1999 Sep), pp. 1316-1319.

Emotion-induced myoclonic absence-like seizures in a patient with inv-dup(15) syndrome : a clinical, EEG, and molecular genetic study

S.M. Sirchia;
1999

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.
Chromosome disorders; GABA; Myoclonic absence seizures; Reflex epilepsy
Settore MED/03 - Genetica Medica
set-1999
http://onlinelibrary.wiley.com/doi/10.1111/j.1528-1157.1999.tb00865.x/pdf
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/204845
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