A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: a case report.
BMC Pediatr
; 19(1): 400, 2019 11 01.
Article
en En
| MEDLINE
| ID: mdl-31672125
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.Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Espasmos Infantiles
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Mutación Missense
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Canal de Sodio Activado por Voltaje NAV1.6
Tipo de estudio:
Prognostic_studies
Límite:
Child, preschool
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Female
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Humans
Idioma:
En
Año:
2019
Tipo del documento:
Article