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

Kao-Min Lin,Yuanqing Wang,Xiaobin Zhang,Jun Ren,Yi Yao,Geng Su,Ying Zhou,Fengpeng Wang,Xin Wang

doi:10.1186/s12887-019-1796-9

Abstract

BackgroundEpilepsy 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 presentationUsing 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.ConclusionsThis 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.

Highlights

Epilepsy is a complex disorder caused by various factors, including genetic aberrance
One third of them shows pharmacoresistance, and 40% of patients who are younger than 3 years are related to the epileptic encephalopathy [1]
The detailed information of this variant is as the followings: SCN8A (NM_014191.4), missense mutation, c.3953A > G, p.N1318S, location: chr12, 52,180,336

Summary

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.

Background

Findings

Discussion and conclusions