Glucose transport 1 deficiency presenting as infantile spasms with a mutation identified in exon 9 of
Glucose transport 1 (GLUT-1) deficiency is a rare syndrome caused by mutations in the glucose transporter 1 gene (SLC2A1) and is characterized by early-onset intractable epilepsy, delayed development, and movement disorder. De novo mutations and several hot spots in N34, G91, R126, R153, and R333 of...
Saved in:
| Main Authors: | , |
|---|---|
| Format: | Book |
| Published: |
Korean Pediatric Society,
2016-11-01T00:00:00Z.
|
| Subjects: | |
| Online Access: | Connect to this object online. |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|