SCN2A-Related Epilepsy: The Phenotypic Spectrum, Treatment and Prognosis

作者：Qi Zeng, Ying Yang, Jing Duan, Xueyang Niu, Yi Chen, Dan Wang, Jing Zhang, Jiaoyang Chen, Xiaoling Yang, Jinliang Li, Zhixian Yang, Yuwu Jiang, Jianxiang Liao, Yuehua Zhang · 发表于：Frontiers in Molecular Neuroscience · 年份：2022 · DOI：10.3389/fnmol.2022.809951 · 被引用次数：59 · 研究领域：Epilepsy research and treatment、Genomics and Rare Diseases、Genetics and Neurodevelopmental Disorders

Objective The aim of this study was to analyze the phenotypic spectrum, treatment, and prognosis of 72 Chinese children with SCN2A variants. Methods The SCN2A variants were detected by next-generation sequencing. All patients were followed up at a pediatric neurology clinic in our hospital or by telephone. Results In 72 patients with SCN2A variants, the seizure onset age ranged from the first day of life to 2 years and 6 months. The epilepsy phenotypes included febrile seizures (plus) ( n = 2), benign (familial) infantile epilepsy ( n = 9), benign familial neonatal-infantile epilepsy ( n = 3), benign neonatal epilepsy ( n = 1), West syndrome ( n = 16), Ohtahara syndrome ( n = 15), epilepsy of infancy with migrating focal seizures ( n = 2), Dravet syndrome ( n = 1), early infantile epileptic encephalopathy ( n = 15), and unclassifiable developmental and epileptic encephalopathy ( n = 8). Approximately 79.2% (57/72) patients had varying degrees of developmental delay. All patients had abnormal MRI findings with developmental delay. 91.7% (55/60) patients with de novo SCN2A variants had development delay, while only 16.7% (2/12) patients with inherited SCN2A variants had abnormal development. 83.9% (26/31) SCN2A variants that were located in transmembrane regions of the protein were detected in patients with development delay. Approximately 69.2% (9/13) SCN2A variants detected in patients with normal development were located in the non-transmembrane regions. Approximately 54.2% ...