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Rare and Treatable Cause of Early-Onset Refractory Absence Seizures
Glut-1 transporter deficiency syndrome (GLUT1-DS) is a rare disorder caused by the mutation in SLC2A1 gene, which results in impaired glucose transport into the brain. It has a broad spectrum of phenotypic presentation ranging from cognitive decline, microcephaly, and refractory seizures to complex...
Gardado en:
| Publicado en: | J Pediatr Neurosci |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Medknow Publications & Media Pvt Ltd
2018
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6144597/ https://ncbi.nlm.nih.gov/pubmed/30271476 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/JPN.JPN_146_17 |
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