Recent advances in genetic testing technologies have revolutionised the identification of genetic abnormalities in early onset developmental and epileptic encephalopathies (DEEs). In this Review, we provide an update on the expanding landscape of genetic factors contributing to DEEs, encompassing over 800 reported genes. We focus on the cellular and molecular mechanisms driving epileptogenesis, with an emphasis on emerging therapeutic strategies and effective treatment options. We explore noteworthy, novel genes linked to DEE phenotypes, such as gBRAT-1 and GNAO1, and gene families such as GRIN and HCN. Understanding the network-level effects of gene variants will pave the way for potential gene therapy applications. Given the diverse comorbidities associated with DEEs, a multidisciplinary team approach is essential. Despite ongoing efforts and improved genetic testing, DEEs lack a cure, and treatment complexities persist. This Review underscores the necessity for larger international prospective studies focusing on both seizure outcomes and developmental trajectories.

中文翻译：

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不断扩大的遗传发育和癫痫性脑病领域：当前理解和未来展望。


基因检测技术的最新进展彻底改变了早发性发育性和癫痫性脑病 （DEE） 中遗传异常的识别。在这篇综述中，我们提供了导致 DEE 的遗传因素不断扩大的最新情况，包括 800 多个已报告的基因。我们专注于驱动癫痫发生的细胞和分子机制，重点是新兴的治疗策略和有效的治疗方案。我们探索了与 DEE 表型相关的值得注意的新基因，例如 gBRAT-1 和 GNAO1，以及 GRIN 和 HCN 等基因家族。了解基因变异的网络水平效应将为潜在的基因治疗应用铺平道路。鉴于与 DEE 相关的多种合并症，多学科团队方法至关重要。尽管不断努力和改进基因检测，但 DEE 缺乏治愈方法，并且治疗复杂性仍然存在。本综述强调了进行更大规模的国际前瞻性研究的必要性，这些研究同时关注癫痫发作结局和发育轨迹。