Macdonald-Laurs Emma, Leventer Richard J
Department of Neurology, The Royal Children's Hospital, Parkville, Victoria, Australia.
Murdoch Children's Research Institute, Parkville, Victoria, Australia.
Epileptic Disord. 2025 Feb;27(1):1-8. doi: 10.1002/epd2.20308. Epub 2024 Dec 6.
Focal cortical dysplasia (FCD) is a common cause of drug-resistant focal epilepsy in children and young adults and is often surgically remediable. The genetics of FCD are increasingly understood due to the ability to perform genomic testing including deep sequencing of resected FCD tissue specimens. There is clear evidence that FCD type II occurs secondary to both germline and somatic mTOR pathway variants, while emerging literature supports the role of SLC35A2, a glycosylation gene, in mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy (MOGHE). Herein, we provide a review of FCDs focusing on their clinical phenotypes, genetic basis, and management considerations when performing genetic testing in this patient group.
局灶性皮质发育不良（FCD）是儿童和青年耐药性局灶性癫痫的常见病因，通常可通过手术治疗。由于能够进行基因组检测，包括对切除的FCD组织标本进行深度测序，人们对FCD的遗传学有了越来越多的了解。有明确证据表明，II型FCD继发于种系和体细胞mTOR通路变异，而新出现的文献支持糖基化基因SLC35A2在伴有少突胶质细胞增生和癫痫的皮质发育轻度畸形（MOGHE）中的作用。在此，我们对FCD进行综述，重点关注其临床表型、遗传基础以及对该患者群体进行基因检测时的管理注意事项。
