STXBP1 gene mutation in newborns with refractory seizures / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 701-704, 2014.
Artículo
en Chino
| WPRIM
| ID: wpr-254218
ABSTRACT
<p><b>OBJECTIVE</b>To study the relationship between STXBP1 gene mutations and refractory seizures with unknown causes in newborns.</p><p><b>METHODS</b>The coding region of STXBP1 gene was detected using direct Sanger sequencing in 11 newborns with refractory seizures of unknown causes.</p><p><b>RESULTS</b>STXBP1 gene mutation was found in 1 out of 11 patients. It was a missense mutation c.1439C>T (p.P480L).</p><p><b>CONCLUSIONS</b>STXBP1 gene mutation can be found in neonatal refractory seizures of unknown causes, suggesting a new approach of further research of this disease.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Convulsiones
/
Proteínas Munc18
/
Genética
/
Mutación
Límite:
Humanos
/
Recién Nacido
Idioma:
Chino
Revista:
Chinese Journal of Contemporary Pediatrics
Año:
2014
Tipo del documento:
Artículo
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