Summary: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 15ql1-13, including the GABRb3 gene. We hypothesize that an overexpression of cerebral y-aminobutyric acid (GABA)-mediated inhibition accounts for the severe epilepsy that we observed in this patient. Key Words: Reflex epilepsy-Chromosome disorders-GABA-Myoclonic absence seizures.The term reflex epilepsy is applied to an epilepsy in which many seizures are triggered by specific stimuli, events, or mental activities, and are mediated by neural pathways (1). Until now, there have been very few reports of reflex seizures induced by emotional stimuli
(2,3).We present here the results of extensive clinical and electroencephalographic (EEG) studies of a 9-year-old boy with seizures induced by emotionally gratifying stimuli. Moreover, because this patient had an invdup(l5) syndrome, we also report the detailed cytogenetic and molecular genetic investigation of the chromosomal 15qll-ql3 region, where the y-aminobutyric acid (GABA)-receptor gene known to play a role in epileptogenesis is located.Accepted March 4, !999. Address correspondence and reprint requests to Dr. U. Aguglia at Clinica Neurologica, Policlinico Mater Domini, Via Tommaso Campanella, 88 100 Catanzaro, Italy. E-mail: aguglia.unicz@interbusiness.it
CASE HISTORY
Clinical historyThis patient also was included in a recent series of patients with chromosome disorders and myoclonic absence-like seizures (4). He was born a week after term (43 weeks) with a birth weight of 2,800 g and a length of 52.0 cm, after an uneventful pregnancy and delivery, except for diminished fetal activity during the last trimester. During the newborn period, he was noted to have diffuse hypotonia, no suckling response, and cryptorchidism. During early infancy, feeding was difficult, and muscular hypotonia persisted. Rapid weight gain began at age 18 months, and his psychomotor development was severely delayed. Epilepsy started at age 6 years with tonic absence seizures, mainly at awakening and during sleep. Of particular interest, from the beginning of his epilepsy, the patient also had occasional reflex seizures characterized by loss of contact and myoclonic jerks of the axial muscles, which appeared when his mother or other relatives played with him. The reflex seizures also were triggere...