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Abstract：
The voltage-gated sodium channel neuronal type 2 alpha subunit (Navα1.2) encoded by the SCN2A gene causes early infantile epileptic encephalopathy (EIEE) inherited in an autosomal dominant manner. Clinically, it has variable presentations, ranging from benign familial infantile seizures (BFIS) to severe EIEE. Diagnosis is achieved through molecular DNA testing of the SCN2A gene. Herein, we report on a 30-month-old Saudi girl who presented on the fourth day of life with EIEE, normal brain magnetic resonance imaging (MRI), normal electroencephalography (EEG), and well-controlled seizures. Genetic investigation revealed a novel homozygous missense mutation (c.5242A > G; p.Asn1748Asp) in the SCN2A gene (NM_001040142.1). This is the first reported autosomal recessive inheritance of a disease allele in the SCN2A and therefore expands the molecular and inheritance spectrum of the SCN2A gene defects.
摘要：
由SCN2A基因编码的电压门控钠通道神经元2型α亚基（Navα1.2）导致以常染色体显性遗传方式遗传的早期婴儿癫痫性脑病（EIEE）。临床上,它有可变的演示文稿，范围从良性家族性婴儿惊厥（BFIS）到严重的EIEE。通过SCN2A基因的分子DNA检测来实现诊断。在这里，我们报道了一个30个月大的沙特女孩，她在生命的第四天出现了EIEE，正常脑磁共振成像（MRI），正常脑电图（EEG），和控制良好的癫痫发作。遗传研究揭示了SCN2A基因(NM_001040142.1)中的新的纯合错义突变(c.5242A>G;p.Asn1748Asp)。这是首次报道的SCN2A中疾病等位基因的常染色体隐性遗传，因此扩展了SCN2A基因缺陷的分子和遗传谱。
