1.STXBP1 gene mutation in newborns with refractory seizures.
Li-Li LIU ; Xin-Lin HOU ; Cong-Le ZHOU ; Ze-Zhong TANG ; Xin-Hua BAO ; Yi JIANG
Chinese Journal of Contemporary Pediatrics 2014;16(7):701-704
OBJECTIVETo study the relationship between STXBP1 gene mutations and refractory seizures with unknown causes in newborns.
METHODSThe coding region of STXBP1 gene was detected using direct Sanger sequencing in 11 newborns with refractory seizures of unknown causes.
RESULTSSTXBP1 gene mutation was found in 1 out of 11 patients. It was a missense mutation: c.1439C>T (p.P480L).
CONCLUSIONSSTXBP1 gene mutation can be found in neonatal refractory seizures of unknown causes, suggesting a new approach of further research of this disease.
Humans ; Infant, Newborn ; Munc18 Proteins ; genetics ; Mutation ; Seizures ; genetics
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