Department of Medicine, Epilepsy Research Centre, University of Melbourne, Heidelberg, Victoria, Australia.
Pediatric Neurology and Muscular Diseases Unit, Giannina Gaslini Institute, Scientific Institute for Research and Health Care, Genoa, Italy.
Epilepsia. 2023 Jun;64 Suppl 1(Suppl 1):S3-S8. doi: 10.1111/epi.17519. Epub 2023 Feb 10.
Familial adult myoclonus epilepsy/benign adult familial myoclonic epilepsy (FAME/BAFME) has emerged as a specific and recognizable epilepsy syndrome with autosomal dominant inheritance found around the world. Here, we trace the history of this syndrome. Initially, it was likely conflated with other familial myoclonus epilepsies, especially the progressive myoclonus epilepsies. As the progressive myoclonus epilepsies became better understood clinically and genetically, this group began to stand out and was first recognized as such in Japan. Subsequently, families were recognized around the world and there was debate as to whether they represented one or multiple disorders. Clarification came with the identification of pentanucleotide repeats in Japanese families, and FAME/BAFME was quickly shown to be due to pentanucleotide expansions in at least six genes. These have geographic predilections and appear to have been caused by historically ancient initial mutations. Within and between families, there is some variation in the phenotype, explained in large part by expansion size, but whether there are features specific to individual genes remains uncertain.
家族性成年肌阵挛性癫痫/良性家族性成年肌阵挛性癫痫（FAME/BAFME）是一种具有明确遗传性的特殊癫痫综合征，在世界各地均有发现。在此，我们追溯该综合征的历史。起初，它可能与其他家族性肌阵挛性癫痫混淆，尤其是进行性肌阵挛性癫痫。随着进行性肌阵挛性癫痫在临床和遗传方面得到更好的理解，这一组开始凸显出来，并首先在日本被识别。随后，世界各地都发现了相关家族，并就它们是否代表一种或多种疾病展开了争论。随着在日本家族中发现五核苷酸重复序列，情况得到了澄清，并且很快证实 FAME/BAFME 是由至少六个基因中的五核苷酸扩展引起的。这些具有地理倾向，似乎是由历史悠久的最初突变引起的。在家族内和家族间，表型存在一定的变异性，这在很大程度上可以用扩展大小来解释，但个别基因是否存在特定特征仍不确定。
