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BMC Pediatrics
Published in: BMC Pediatrics 1/2019

Open Access 01-12-2019 | Magnetic Resonance Imaging | Case report

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

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

Published in: BMC Pediatrics | Issue 1/2019

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Abstract

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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Metadata
Title
A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: a case report
Authors
Kao-Min Lin
Geng Su
Fengpeng Wang
Xiaobin Zhang
Yuanqing Wang
Jun Ren
Xin Wang
Yi Yao
Ying Zhou
Publication date
01-12-2019
Publisher
BioMed Central
Published in
BMC Pediatrics / Issue 1/2019
Electronic ISSN: 1471-2431
DOI
https://doi.org/10.1186/s12887-019-1796-9

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