Gardiner R M
Department of Paediatrics, Royal Free and University College Medical School, UCL, Rayne Institute, London, UK.
J Neurol. 2000 May;247(5):327-34. doi: 10.1007/s004150050598.
A genetic contribution to aetiology is estimated to be present in up to 40% of patients with epilepsy. It is useful to categorise genetic epilepsies according to the mechanisms of inheritance into Mendelian disorders, non-mendelian or 'complex' disorders, and chromosomal disorders. Over 200 Mendelian diseases include epilepsy as part of the phenotype, and the genes for a number of these have been identified recently. These include autosomal recessive progressive myoclonic epilepsies such as Unverricht-Lundborg disease, Lafora disease and the neuronal ceroid lipofuscinoses, and three autosomal dominant idiopathic epilepsies. The last named have been shown to arise from mutations in ion channel genes. Autosomal dominant nocturnal frontal lobe epilepsy is caused by mutations in CHRNA4, benign familial neonatal convulsions by mutations in KCNQ2 and KCNQ3, and generalised epilepsy with febrile seizures plus by mutations in SCN1B. 'Complex', familial epilepsies are more difficult to analyse, but evidence has been obtained for loci predisposing to juvenile myoclonic epilepsy on chromosome 6p and 15q. Lastly, the genes underlying several spike-wave epilepsies in mice have been cloned, and three of these encode sub-units of voltage-gated calcium channels.
据估计，高达40%的癫痫患者病因中有遗传因素。根据遗传机制将遗传性癫痫分为孟德尔疾病、非孟德尔或“复杂”疾病以及染色体疾病是很有用的。超过200种孟德尔疾病将癫痫作为表型的一部分，其中一些疾病的基因最近已被确定。这些疾病包括常染色体隐性进行性肌阵挛癫痫，如昂韦里希特-伦德伯格病、拉福拉病和神经元蜡样脂褐质沉积症，以及三种常染色体显性特发性癫痫。最后提到的这些疾病已被证明是由离子通道基因突变引起的。常染色体显性夜间额叶癫痫由CHRNA4基因突变引起，良性家族性新生儿惊厥由KCNQ2和KCNQ3基因突变引起，伴有热性惊厥附加症的全身性癫痫由SCN1B基因突变引起。“复杂”的家族性癫痫更难分析，但已获得证据表明6号染色体短臂和15号染色体长臂上存在易患青少年肌阵挛癫痫的基因座。最后，小鼠中几种棘波癫痫的相关基因已被克隆，其中三个基因编码电压门控钙通道的亚基。
