Steinlein O
Institut für Humangenetik, Universität, Bonn.
Nervenarzt. 1996 Oct;67(10):870-4. doi: 10.1007/s001150050064.
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a disease entity that has only recently been discovered. Its clinical variability and the frequently missed EEG features are probably some of the reasons why this disease is often overlooked or misdiagnosed. In a large Australian pedigree, a link was found between ADNFLE and polymorphic markers on chromosome 22q13.2-q13.3. Mutation analysis identified a mis-sense mutation in the gene coding for the alpha 4 subunit of the neuronal nicotinic acetylcholine receptor. The mutation was found in all affected family members. Thus, for the first time a likely relationship between an idiopathic epilepsy and a specific gene has been found. Additional studies will be needed to clarify the underlying pathologic mechanism. Furthermore, the hypothesis that other members of this multigene family are involved in epileptic diseases appears attractive.
常染色体显性遗传性夜间额叶癫痫（ADNFLE）是一种直到最近才被发现的疾病实体。其临床变异性以及脑电图特征常常被遗漏，可能是该疾病经常被忽视或误诊的部分原因。在一个澳大利亚的大家族谱系中，发现ADNFLE与22号染色体q13.2 - q13.3上的多态性标记之间存在联系。突变分析确定在编码神经元烟碱型乙酰胆碱受体α4亚基的基因中存在一个错义突变。在所有受影响的家庭成员中都发现了该突变。因此，首次发现了一种特发性癫痫与特定基因之间可能存在的关系。还需要进一步的研究来阐明潜在的病理机制。此外，该多基因家族的其他成员参与癫痫疾病的假说似乎很有吸引力。
