Neonatal Intensive Care Unit and Neonatal Accompaniment Unit, Azienda Ospedaliero-Universitaria Policlinico "Rodolico-San Marco", San Marco Hospital, University of Catania, Catania, Italy.
Unit of Clinical Paediatrics, Azienda Ospedaliero-Universitaria Policlinico, "Rodolico-San Marco", San Marco Hospital, Catania, Italy.
Neuropediatrics. 2023 Oct;54(5):297-307. doi: 10.1055/a-2060-4576. Epub 2023 Mar 22.
Autosomal dominant mutations of the gene can cause two epileptic disorders: benign familial neonatal seizures (BFNS) and developmental epileptic encephalopathy (DEE). This systematic review aims to identify the best reported therapy for these patients, relating to phenotype, neurodevelopmental outcome, and an eventual correlation between phenotype and genotype.
We searched on PubMed using the search terms "" AND "therapy" and "" AND "treatment"; we found 304 articles. Of these, 29 met our criteria. We collected the data from 194 patients. All 29 articles were retrospective studies.
In all, 104 patients were classified as DEE and 90 as BFNS. After treatment began, 95% of BFNS patients became seizure free, whereas the seizures stopped only in 73% of those with DEE. Phenobarbital and sodium channel blockers were the most used treatment in BFNS. Most of the DEE patients (95%) needed polytherapy for seizure control and even that did not prevent subsequent developmental impairment (77%).Missense mutations were discovered in 96% of DEE patients; these were less common in BFNS (50%), followed by large deletion (16%), truncation (16%), splice donor site (10%), and frameshift (7%).
Phenobarbital or carbamazepine appears to be the most effective antiseizure medication for children with a "benign" variant. On the contrary, polytherapy is often needed for DEE patients, even if it does not seem to improve neurological outcomes. In DEE patients, most mutations were located in S4 and S6 helix, which could serve as a potential target for the development of more specific treatment in the future.
基因的常染色体显性突变可导致两种癫痫疾病：良性家族性新生儿惊厥（BFNS）和发育性癫痫性脑病（DEE）。本系统评价旨在确定针对这些患者的最佳报告疗法，涉及表型、神经发育结局以及表型与基因型之间的最终相关性。
我们在 PubMed 上使用搜索词“”和“therapy”以及“”和“treatment”进行搜索，共找到 304 篇文章。其中 29 篇符合我们的标准。我们从 194 名患者中收集数据。所有 29 篇文章均为回顾性研究。
共有 104 例患者被归类为 DEE，90 例为 BFNS。开始治疗后，95%的 BFNS 患者癫痫发作停止，而 DEE 患者中只有 73%的患者癫痫发作停止。苯巴比妥和钠离子通道阻滞剂是 BFNS 中最常用的治疗方法。大多数 DEE 患者（95%）需要多种药物治疗来控制癫痫发作，即使这样也不能防止随后的发育障碍（77%）。96%的 DEE 患者发现错义突变；在 BFNS 中则较少见（50%），其次是大片段缺失（16%）、截断（16%）、剪接供体位点（10%）和移码（7%）。
苯巴比妥或卡马西平似乎是治疗具有“良性”变异的儿童最有效的抗癫痫药物。相反，DEE 患者通常需要多种药物治疗，即使这似乎并不能改善神经结局。在 DEE 患者中，大多数突变位于 S4 和 S6 螺旋，这可能成为未来开发更特异治疗方法的潜在靶点。
