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A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C
BACKGROUND: Glucose transporter type 1 deficiency syndrome is the result of impaired glucose transport into the brain. Patients with glucose transporter type 1 syndrome may present with infantile seizures, developmental delay, acquired microcephaly, spasticity and ataxia. CASE REPORT: Here, we repor...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Galenos Publishing
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5785666/ https://www.ncbi.nlm.nih.gov/pubmed/28443597 http://dx.doi.org/10.4274/balkanmedj.2016.1376 |