Our current knowledge of genetically determined forms of epilepsy has shortened the diagnostic pathway usually experienced by the families of infants diagnosed with early-onset developmental and epileptic encephalopathies. Genetic causes can be found in up to 80% of infants presenting with early-onset developmental and epileptic encephalopathies, often in the context of an uneventful perinatal history and with no clear underlying brain abnormalities. Although current disease-specific therapies remain limited and patient outcomes are often guarded, a genetic diagnosis may lead to early therapeutic intervention using new and/or repurposed therapies. In this review, an overview of epilepsy genetics, the indications for genetic testing in infants, the advantages and limitations of each test, and the challenges and ethical implications of genetic testing are discussed. In addition, the following causative genes associated with early-onset developmental and epileptic encephalopathies are discussed in detail: KCNT1, KCNQ2, KCNA2, SCN2A, SCN8A, STXBP1, CDKL5, PIGA, SPTAN1, and GNAO1. The epilepsy phenotypes, comorbidities, electroencephalgraphic findings, neuroimaging findings, and potential targeted therapies for each gene are reviewed.

我们目前对遗传决定的癫痫形式的了解缩短了诊断为早发性发育性和癫痫性脑病的婴儿家庭通常经历的诊断途径。高达 80% 的婴儿患有早发性发育性和癫痫性脑病，通常在围产期病史平稳且没有明确的潜在脑异常的情况下，可以发现遗传原因。尽管目前的疾病特异性疗法仍然有限，并且患者的结果通常受到保护，但基因诊断可能会导致使用新的和/或重新调整用途的疗法进行早期治疗干预。在这篇综述中，癫痫遗传学的概述、婴儿基因检测的适应症、每种检测的优点和局限性、并讨论了基因检测的挑战和伦理意义。此外，还详细讨论了与早发性发育性和癫痫性脑病相关的以下致病基因：KCNT1、KCNQ2、KCNA2、SCN2A、SCN8A、STXBP1、CDKL5、PIGA、SPTAN1和GNAO1。综述了每个基因的癫痫表型、合并症、脑电图检查结果、神经影像学检查结果和潜在的靶向治疗。