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Glucose transport 1 deficiency presenting as infantile spasms with a mutation identified in exon 9 of SLC2A1
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...
保存先:
| 出版年: | Korean J Pediatr |
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| 主要な著者: | , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
The Korean Pediatric Society
2016
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5177706/ https://ncbi.nlm.nih.gov/pubmed/28018440 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2016.59.11.S29 |
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