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...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Korean Pediatric Society
2016-11-01
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| Series: | Korean Journal of Pediatrics |
| Subjects: | |
| Online Access: | http://kjp.or.kr/upload/pdf/kjped-59-S29.pdf |