Institute of Neuropathology, Section for Translational Epilepsy Research, Medical Faculty, University of Bonn, Bonn, Germany.
Neuronal Signaling in Epilepsy and Glioma, Université Paris Cité, Institute of Psychiatry and Neuroscience of Paris, INSERM U1266, Paris, France.
Epilepsia. 2024 Nov;65(11):3138-3154. doi: 10.1111/epi.18124. Epub 2024 Sep 20.
Early onset epilepsies occur in newborns and infants, and to date, genetic aberrations and variants have been identified in approximately one quarter of all patients. With technological sequencing advances and ongoing research, the genetic diagnostic yield for specific seizure disorders and epilepsies is expected to increase. Genetic variants associated with epilepsy include chromosomal abnormalities and rearrangements of various sizes as well as single gene variants. Among these variants, a distinction can be made between germline and somatic, with the latter being increasingly identified in epilepsies with focal cortical malformations in recent years. The identification of the underlying genetic mechanisms of epilepsy syndromes not only revolutionizes the diagnostic schemes but also leads to a better understanding of the diseases and their interrelationships, ultimately providing new opportunities for therapeutic targeting. At the XVI Workshop on Neurobiology of Epilepsy (WONOEP 2022, Talloires, France, July 2022), various etiologies, research models, and mechanisms of genetic early onset epilepsies were presented and discussed.
早发性癫痫发生于新生儿和婴儿，迄今为止，已在大约四分之一的所有患者中发现了遗传异常和变异。随着技术测序的进步和持续的研究，特定癫痫发作障碍和癫痫的遗传诊断率有望提高。与癫痫相关的遗传变异包括各种大小的染色体异常和重排，以及单基因变异。在这些变异中，可以区分种系和体细胞，近年来，在后一种变异中，越来越多地在伴有局灶性皮质发育不良的癫痫中被识别。癫痫综合征潜在遗传机制的确定不仅彻底改变了诊断方案，而且还加深了对这些疾病及其相互关系的理解，最终为治疗靶点提供了新的机会。在第十六届癫痫神经生物学研讨会（WONOEP 2022，法国塔卢瓦尔，2022 年 7 月）上，介绍和讨论了各种病因、研究模型和遗传早发性癫痫的机制。
