Striano Pasquale, de Falco Fabrizio A, Minetti Carlo, Zara Federico
Muscular and Neurodegenerative Diseases Unit, G. Gaslini Institute, University of Genova, Genova, Italy.
Epilepsia. 2009 May;50 Suppl 5:37-40. doi: 10.1111/j.1528-1167.2009.02118.x.
Work on the classification of epileptic syndromes is ongoing, and many syndromes are still under discussion. In particular, special difficulty still persists in correctly classifying epilepsies with myoclonic seizures. The existence of special familial epileptic syndromes primarily showing myoclonic features has been recently suggested on the basis of a clear pattern of inheritance or on the identification of new chromosomal genetic loci linked to the disease. These forms in development include familial infantile myoclonic epilepsy (FIME), benign adult familial myoclonic epilepsy (BAFME), or autosomal dominant cortical myoclonus and epilepsy (ADCME), and, maybe, adult-onset myoclonic epilepsy (AME). In the future, the identification of responsible genes and the protein products will contribute to our understanding of the molecular pathways of epileptogenesis and provide neurobiologic criteria for the classification of epilepsies, beyond the different phenotypic expression.
癫痫综合征的分类工作仍在进行中，许多综合征仍在讨论中。特别是，正确分类伴有肌阵挛发作的癫痫仍存在特殊困难。最近，基于明确的遗传模式或与该疾病相关的新染色体基因位点的鉴定，有人提出主要表现为肌阵挛特征的特殊家族性癫痫综合征的存在。这些正在研究中的类型包括家族性婴儿肌阵挛癫痫（FIME）、良性成人家族性肌阵挛癫痫（BAFME）或常染色体显性遗传性皮质肌阵挛和癫痫（ADCME），或许还有成人起病的肌阵挛癫痫（AME）。未来，确定致病基因和蛋白质产物将有助于我们理解癫痫发生的分子途径，并为癫痫的分类提供神经生物学标准，而不仅仅局限于不同的表型表达。
