Abstract：
Large cohort studies and variant-specific electrophysiology have enabled the delineation of different SCN2A-epilepsy phenotypes, phenotype-genotype correlations, prediction of pharmacosensitivity to sodium channel blockers, and long-term prognostication for clinicians and families. One of the most common clinical presentations of SCN2A pathological variants is benign familial neonatal-infantile seizures (BFNIS), which are characterized by seizure onset between the first day of life and 23 months of age and typically resolve, either spontaneously or with the aid of sodium channel blockers, within the first 2 years of life. In 2004, Berkovic et al. reported the case of a young boy affected by SCN2A-related BFNIS whose mother, who carried the same pathological variant, had also presented with BFNIS in infancy. Our case report focuses on the aforementioned woman who, more than 40 years later, presented two additional seizures, therefore opening the possibility of a role for SCN2A-related seizures in adulthood.
摘要：
大型队列研究和变异特异性电生理学已经能够描绘不同的SCN2A癫痫表型，表型-基因型相关性，预测钠通道阻滞剂的药物敏感性，以及临床医生和家庭的长期预测。SCN2A病理变异最常见的临床表现之一是良性家族性新生儿-婴儿惊厥（BFNIS），其特征是在生命的第一天到23个月大之间发作，通常会消退，自发或在钠通道阻滞剂的帮助下，在生命的头两年内。2004年，Berkovic等人。报道了一个受SCN2A相关BFNIS影响的小男孩的案例，其母亲，携带相同的病理变异，在婴儿期也有BFNIS。我们的病例报告集中在上述女性身上，40多年后，又缉获了两次，因此开启了成年期SCN2A相关癫痫发作的可能性。
