The classical description of Dravet syndrome, the prototypic developmental and epileptic encephalopathy, is of a normal 6-month-old infant presenting with a prolonged, febrile, hemiclonic seizure and showing developmental slowing after age 1 year. SCN1A pathogenic variants are found in >80% of patients. Many patients have atypical features resulting in diagnostic delay and inappropriate therapy. We aimed to provide an evidence-based definition of SCN1A-Dravet syndrome in readiness for precision medicine trials.

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定义 Dravet 综合征：精准医学试验的必要先决条件

Dravet 综合征的经典描述是典型的发育性和癫痫性脑病，是一个正常 6 个月大的婴儿，表现为长时间的高热性半阵挛性癫痫发作，并在 1 岁后表现出发育减慢。SCN1A致病性变异存在于 >80% 的患者中。许多患者具有非典型特征，导致诊断延迟和治疗不当。我们旨在为SCN1A - Dravet 综合征提供基于证据的定义，为精准医学试验做好准备。