| Autor: |
Li-Li, Liu, Xin-Lin, Hou, Cong-Le, Zhou, Ze-Zhong, Tang, Xin-Hua, Bao, Yi, Jiang |
| Rok vydání: |
2014 |
| Předmět: |
|
| Zdroj: |
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics. 16(7) |
| ISSN: |
1008-8830 |
| Popis: |
To study the relationship between STXBP1 gene mutations and refractory seizures with unknown causes in newborns.The coding region of STXBP1 gene was detected using direct Sanger sequencing in 11 newborns with refractory seizures of unknown causes.STXBP1 gene mutation was found in 1 out of 11 patients. It was a missense mutation: c.1439CT (p.P480L).STXBP1 gene mutation can be found in neonatal refractory seizures of unknown causes, suggesting a new approach of further research of this disease. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
|
