OBJECTIVE: To study the relationship between STXBP1 gene mutations and refractory seizures with unknown causes in newborns. METHODS: The coding region of STXBP1 gene was detected using direct Sanger sequencing in 11 newborns with refractory seizures of unknown causes. RESULTS: STXBP1 gene mutation was found in 1 out of 11 patients. It was a missense mutation: c.1439C>T (p.P480L). CONCLUSIONS: STXBP1 gene mutation can be found in neonatal refractory seizures of unknown causes, suggesting a new approach of further research of this disease.
OBJECTIVE: To study the relationship between STXBP1 gene mutations and refractory seizures with unknown causes in newborns. METHODS: The coding region of STXBP1 gene was detected using direct Sanger sequencing in 11 newborns with refractory seizures of unknown causes. RESULTS:STXBP1 gene mutation was found in 1 out of 11 patients. It was a missense mutation: c.1439C>T (p.P480L). CONCLUSIONS:STXBP1 gene mutation can be found in neonatal refractory seizures of unknown causes, suggesting a new approach of further research of this disease.