Różycka Agata, Dorszewska Jolanta, Jagodziński Paweł P
Katedra i Zakład Biochemii i Biologii Molekularnej, Uniwersytet Medyczny w Poznaniu, ul. Świêcickiego 6, 60-781.
Neurol Neurochir Pol. 2011 Jan-Feb;45(1):42-56. doi: 10.1016/s0028-3843(14)60059-1.
Despite advances in diagnostics, the cause of epilepsy has still not been unequivocally determined in 60-65% of patients. In this group of patients, genetic factors probably play the main role. It is thought that genetic predisposition is responsible for the occurrence of so-called "idiopathic" forms of epilepsy in about 40% of patients. The genetic basis of epilepsy has been substantiated by numerous examples of familial forms of epileptic syndromes. Among these, autosomal dominant nocturnal frontal lobe epilepsy and juvenile myoclonic epilepsy can be mentioned. Mutations in the neuronal nicotinic acetylcholine receptor subunit genes are responsible for both these epilepsies. Recent advances in molecular genetics have provided the means for better understanding of human epileptogenesis at a molecular level, which facilitates clinical diagnosis and provides a more rational basis for therapy and prevention of this form of epilepsy.
尽管诊断技术有所进步,但仍有60% - 65%的癫痫患者病因尚未明确。在这组患者中,遗传因素可能起主要作用。据认为,遗传易感性约在40%的患者中导致所谓“特发性”癫痫形式的发生。癫痫的遗传基础已通过众多家族性癫痫综合征的实例得到证实。其中可提及常染色体显性夜间额叶癫痫和青少年肌阵挛性癫痫。这两种癫痫均由神经元烟碱型乙酰胆碱受体亚基基因突变引起。分子遗传学的最新进展为在分子水平上更好地理解人类癫痫发生机制提供了手段,这有助于临床诊断,并为这种癫痫形式的治疗和预防提供更合理的依据。