Aguglia U, Le Piane E, Gambardella A, Messina D, Russo C, Sirchia S M, Porta G, Quattrone A
Department of Medical Sciences, School of Medicine, University of Catanzaro, Italy.
Epilepsia. 1999 Sep;40(9):1316-9. doi: 10.1111/j.1528-1157.1999.tb00865.x.
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.
我们描述了一名9岁患有inv-dup(15)综合征男孩的临床脑电图和分子遗传学研究，该男孩的癫痫发作由情感愉悦刺激诱发。反射性癫痫发作在其母亲反复亲吻脸颊开始后5 - 20秒或观看愉快或有趣事件后开始。其特征为双侧放电，主要累及颞叶区域，并演变为肌阵挛失神样发作。非情感刺激，如捏、吸吮或摩擦他的脸颊，或仅亲吻的声音，均未能诱发癫痫发作。这些癫痫发作对抗癫痫药物（AED）治疗耐药。分子遗传学研究显示15号染色体甲基化模式正常，15q11 - q13片段有三个拷贝（两个来自母亲，一个来自父亲），包括GABRb3基因。我们推测大脑γ-氨基丁酸（GABA）介导的抑制作用过度表达是我们在该患者中观察到的严重癫痫的原因。
