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机译:涉及SCN1A SCN1A的体细胞马赛克缺失原因DRAVET综合症
Department of PediatricsTohoku University School of MedicineSendai Japan;
Department of PediatricsFukuoka UniversityFukuoka Japan;
Department of PediatricsKyoto University Graduate School of MedicineKyoto Japan;
National Epilepsy CenterShizuoka Institute of Epilepsy and Neurological DisordersShizuoka Japan;
Tokyo Women's Medical University Institute for Integrated Medical SciencesTokyo Japan;
Tokyo Women's Medical University Institute for Integrated Medical SciencesTokyo Japan;
Department of PediatricsTohoku University School of MedicineSendai Japan;
Department of PediatricsFukuoka UniversityFukuoka Japan;
copy number variations; epileptic encephalopathy; microdeletion; somatic mosaicism;
机译:涉及SCN1A SCN1A的体细胞马赛克缺失原因DRAVET综合症
机译:建立具有SCN1A突变嵌合体的个体的同基因iPSC,作为研究Dravet综合征神经认知障碍的模型
机译:具有自闭症的Dravet综合征,从父亲马赛克杂合突变突变于SCN1A
机译:SCN1A点突变对神经元连通性的影响
机译:用双胞胎源性对人IPSC衍生的神经元进行建模SCN1A癫痫
机译:另一例由新的SCN1A缺失引起的Dravet综合征的父母镶嵌术:病例报告
机译:Dravet综合征与Scn1a突变的基因型与表型的相关性增加分子诊断的效率。