Pediatric Neurology and Development Center, Assaf Harofe Medical Center, Zerifin,, Neonatolgy Unit, Assaf Harofe Medical Center, Zerifin, Sackler faculty of medicine, Tel Aviv University, Tel Aviv.
Pediatric Neurology and Development Center, Assaf Harofe Medical Center, Zerifin,, Sackler faculty of medicine, Tel Aviv University, Tel Aviv.
Epileptic Disord. 2018 Oct 1;20(5):440-446. doi: 10.1684/epd.2018.1001.
Voltage-gated sodium channel alpha subunit 2 (SCN2A) gene mutations are associated with neonatal seizures and a wide range of epilepsy syndromes. Previous reports suggest that traditional sodium channel blockers (SCBs) such as phenytoin, carbamazepine, and lamotrigine have a beneficial effect on SCN2A-related neonatal seizures, as they counteract the gain-of-function effect of mutated Nav1.2 channels. Additionally, SCBs are beneficial against other sodium and potassium channel-related neonatal seizures. There are, however, few reports describing the effect of the new SCB lacosamide against neonatal and infantile epileptic seizures. We report herein two neonates with intractable neonatal seizures with SCN2A pathogenic missense variants. Both infants showed temporary seizure relief following IV administrations of phenytoin, but were resistant to a combination of antiepileptic drugs, while complete seizure control was achieved following lacosamide administration. We suggest that SCBs, e.g. phenytoin, should be introduced early for refractory neonatal seizures of non-lesional and presumably genetic origin. If any beneficial response to a SCB is noted, this should prompt an initiation of additional SCBs. New clinical trials will provide data on the efficacy and safety of the new SCB lacosamide for genetic neonatal seizures and perhaps neonatal seizures in general.
电压门控钠离子通道α亚基 2（SCN2A）基因突变与新生儿癫痫发作和多种癫痫综合征有关。先前的报告表明，传统的钠离子通道阻滞剂（SCB），如苯妥英、卡马西平和拉莫三嗪，对 SCN2A 相关的新生儿癫痫发作有有益的作用，因为它们可以对抗突变 Nav1.2 通道的功能获得效应。此外，SCB 对其他钠离子和钾离子通道相关的新生儿癫痫发作也有好处。然而，很少有报道描述新型 SCB 拉科酰胺对新生儿和婴儿癫痫发作的影响。我们报告了两名患有 SCN2A 致病性错义变异的难治性新生儿癫痫发作的婴儿。两名婴儿在静脉注射苯妥英后暂时缓解了癫痫发作，但对多种抗癫痫药物耐药，而在使用拉科酰胺后完全控制了癫痫发作。我们建议对于非病变和可能遗传来源的难治性新生儿癫痫发作，应尽早使用 SCB，如苯妥英。如果注意到对 SCB 的任何有益反应，应促使开始使用其他 SCB。新的临床试验将提供关于新型 SCB 拉科酰胺治疗遗传新生儿癫痫发作和可能一般新生儿癫痫发作的疗效和安全性的数据。
