Abstract：
SCN8A variants cause a spectrum of epilepsy phenotypes ranging from self-limited infantile epilepsy (SeLIE) to developmental and epileptic encephalopathy. SeLIE is an infantile onset focal epilepsy, occurring in developmentally normal infants, which often resolves by 3 years. Our aim was to ascertain when epilepsy resolves in SCN8A-SeLIE. We identified unpublished individuals with SCN8A-SeLIE and performed detailed phenotyping. Literature was searched for published SCN8A-SeLIE cases. Nine unpublished individuals from four families were identified (age at study = 3.5-66 years). Six had their last seizure after 3 years (range = 4-21 years); although drug-responsive and despite multiple weaning attempts (1-5), five of six remain on antiseizure medications (carbamazepine, n = 3; lamotrigine, n = 2). We identified 29 published individuals with SCN8A-SeLIE who had data on seizure progression. Of the 22 individuals aged at least 10 years, reported here or in the literature, nine of 22 (41%) had seizure offset prior to 3 years, five of 22 (23%) had seizure offset between 3 and 10 years, and eight of 22 (36%) had seizures after 10 years. Our data highlight that more than half of individuals with SCN8A-SeLIE continue to have seizures into late childhood. In contrast to SeLIE due to other etiologies, many individuals have a more persistent, albeit drug-responsive, form of epilepsy.
摘要：
SCN8A变体引起一系列癫痫表型，从自限婴儿癫痫（SeLIE）到发育性和癫痫性脑病。SeLIE是一种婴儿发作的局灶性癫痫,发生在发育正常的婴儿，这通常会解决3年。我们的目的是确定SCN8A-SeLIE中癫痫何时消退。我们用SCN8A-SeLIE鉴定了未发表的个体，并进行了详细的表型鉴定。检索文献以寻找已发表的SCN8A-SeLIE病例。确定了来自四个家庭的9个未发表的个体（研究年龄=3.5-66岁）。6人在3年后（范围=4-21年）有最后一次癫痫发作;尽管药物反应，尽管多次断奶尝试（1-5），六个人中有五个仍在服用抗癫痫药物(卡马西平，n=3；拉莫三嗪，n=2)。我们确定了29名SCN8A-SeLIE患者，他们有癫痫发作进展的数据。在22名年龄至少10岁的人中，在这里或文献中报道，22人中有9人(41%)在3年前癫痫发作被抵消，22人中有5人(23%)的缉获量在3至10年之间被抵消，22人中有8人(36%)在10年后出现癫痫发作.我们的数据表明，超过一半的SCN8A-SeLIE患者在儿童后期继续癫痫发作。与SeLIE相比，由于其他病因，许多人有一个更持久的，尽管药物反应，癫痫的形式。
