SCN2A‐associated developmental and epileptic encephalopathies (DEEs) present with seizures, developmental impairments, and often both. We sought to characterize the level and pattern of development in children with SCN2A variants, and to address the sensitivity of the Vineland Adaptive Behavior Scales (VABS) in measuring changes over time in children with SCN2A‐DEEs.

中文翻译：

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SCN2A - 发育性和癫痫性脑病：非癫痫结果试验准备的挑战

SCN2A 相关的发育性和癫痫性脑病 (DEE) 表现为癫痫发作、发育障碍，通常两者兼而有之。我们试图描述 SCN2A 变异儿童的发育水平和模式，并解决 Vineland 适应性行为量表 (VABS) 在测量 SCN2A-DEE 儿童随时间变化的敏感性。