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Abstract：
SCN3A was recently recognized as a gene associated with neurodevelopmental disorder and epilepsy. We present two additional patients with a novel de novo SCN3A pathogenic variant, and a review of all published cases of de novo variants. In one of our patients brain magnetic resonance imaging (MRI) disclosed a severe polymicrogyria and in the other it was normal. The clinical phenotype was characterized by a severe developmental delay and refractory epilepsy in the patient with polymicrogyria and intellectual disability with autistic features and pharmacoresponsive epilepsy in the subject with normal MRI. Polymicrogyria, a disorder of progenitor cells proliferation and migration, is an unanticipated finding for an ion channel dysfunction.
摘要：
SCN3A最近被认为是与神经发育障碍和癫痫相关的基因。我们提供了另外两名具有新的从头SCN3A致病变体的患者，并回顾了所有已发表的从头变异病例。在我们的一名患者中，脑部磁共振成像（MRI）发现了严重的多微陀螺仪，而在另一名患者中，这是正常的。临床表型的特征是在MRI正常的受试者中，患有多微陀螺和智力障碍并具有自闭症特征和药物反应性癫痫的患者出现严重的发育迟缓和难治性癫痫。Polymicrogyria,祖细胞增殖和迁移的紊乱，是离子通道功能障碍的意外发现。
