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葡萄糖转运子-1缺乏综合征一例报告.
- Source :
-
Tianjin Medical Journal . 2020, Vol. 48 Issue 8, p777-779. 3p. - Publication Year :
- 2020
-
Abstract
- Glucose transporter-1 deficiency syndrome (GLUT1-DS) is a rare clinical autosomal dominant genetic disease characterized by early onset age, onset of recurrent convulsions, mental and motor retardation, and good effect of ketogenic diet. A case of GLUT1-DS diagnosed in our hospital was analyzed retrospectively. SLC2A1 gene mutation and the heterozygous shift coding mutation of c.164_165 delins TTCA were found by second-generation sequencing of epileptic gene package. A new mutation was found by gene analysis, which enriched GLUT1-DS gene mutation database. [ABSTRACT FROM AUTHOR]
Details
- Language :
- Chinese
- ISSN :
- 02539896
- Volume :
- 48
- Issue :
- 8
- Database :
- Academic Search Index
- Journal :
- Tianjin Medical Journal
- Publication Type :
- Academic Journal
- Accession number :
- 146434774
- Full Text :
- https://doi.org/10.11958/20193847