Tobacco habits modulate autosomal dominant nocturnal frontal lobe epilepsy
Tobacco habits modulate autosomal dominant nocturnal frontal lobe epilepsy
复制标题
DOI：
10.1016/j.yebeh.2006.07.008
复制
发表时间：
2006-11-01
影响因子：
2.6
通讯作者：
Picard, Fabienne
中科院分区：
文献类型：
--
作者：
Brodtkorb, Eylert;Picard, Fabienne
常染色体显性遗传夜间额叶癫痫（ADNFLE）中神经元烟碱乙酰胆碱受体的突变已被证实。先前在1例病例中报告了尼古丁给药的有益作用。我们调查了来自两个α 4突变（776ins3和S248F）家系的22名受试者的烟草习惯的影响。受试者接受采访的尼古丁摄入和癫痫发作的模式。无癫痫发作与烟草使用显著相关（P = 0.024）。所有7名有明显ADNFLE的非吸烟者都有持续性癫痫发作。癫痫发作的波动，包括长期缓解，对应于一些患者的烟草习惯的变化。一名最近开始接受尼古丁透皮治疗的患者出现了改善。我们的结论是，烟草似乎是一个环境因素，影响癫痫发作的易感性在ADNFLE。尼古丁使突变受体脱敏而失活可能解释了这种有益的作用。尼古丁经皮给药治疗ADNFLE的有效性和安全性有待进一步研究。(c)2006年爱思唯尔公司All rights reserved.
Mutations in neuronal nicotinic acetylcholine receptors have been demonstrated in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). The beneficial effect of nicotine administration was previously reported in one single case. We investigated the influence of the tobacco habits of 22 subjects from two pedigrees with alpha 4 mutations (776ins3 and S248F). Subjects were interviewed with respect to pattern of nicotine intake and seizures. Seizure freedom was significantly associated with tobacco use (P = 0.024). All seven nonsmokers with manifest ADNFLE had persistent seizures. Seizure fluctuations, including long remissions, corresponded to changes in tobacco habits in several patients. One patient who recently had begun treatment with transdermal nicotine experienced improvement. We conclude that tobacco appears to be an environmental factor that influences seizure susceptibility in ADNFLE. Inactivation by desensitization of the mutant receptors by nicotine may explain the beneficial effect. The efficacy and safety of transdermal nicotine in ADNFLE should be further explored. (c) 2006 Elsevier Inc. All rights reserved.