A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: a case report

Lin, KM; Su, G; Wang, FP; Zhang, XB; Wang, YQ; Ren, J; Wang, X; Yao, Y; Zhou, Y

Wang, X (reprint author), Xiamen Univ, Inst Neurosci, Sch Med, Fujian Prov Key Lab Neurodegenerat Dis & Aging Re, Xiamen 361102, Fujian, Peoples R China.; Yao, Y (reprint author), Shenzhen Childrens Hosp, Div Epilepsy Surg, 7019 Yi Tian Rd, Shenzhen 51802

BMC PEDIATRICS, 2019; 19 (1):


Background Epilepsy is a complex disorder caused by various factors, including genetic aberrance. Recent studies have identified an essential role of the sodium channel Nav1.6, encoded by the gene SCN8A, in epileptic encephalopathy. Case presentation Using parent-offspring trio targeted-exome sequencing, we identified a de novo heterozygous missense mutation c.3953A > G (p.N1318S) in SCN8A in a 3-year-and-9-month Chinese female patient with early infantile epileptic encephalopathy and a normal magnetic resonance imaging of the brain. Conclusions This de novo mutation was only detected in the patient but not in her parents. Bioinformatic analysis indicates the pathogenicity of this mutation. Administration of the sodium channel blocker well controlled seizures in the patient. Therefore, we recommend trio targeted-exome sequencing as a routine method for pathogenic variant screening in patients with intractable epilepsy and a normal MRI.

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