STXBP1 gene mutation in newborns with refractory seizures / 中国当代儿科杂志

<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>