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Glucose Transporter Type 1 Deficiency Syndrome: Developmental Delay and Early-Onset Ataxia in a Novel Mutation of the SLC2A1 Gene
Glucose transporter type 1 deficiency syndrome (GLUT1-DS) was first described by De Vivo in 1991, and the classic clinical manifestations include infantile epilepsy, developmental delay, and acquired microcephaly. A neurological complex disorder including elements of hypotonia, spasticity, ataxia, a...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Medknow Publications & Media Pvt Ltd
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6413611/ https://www.ncbi.nlm.nih.gov/pubmed/30937099 http://dx.doi.org/10.4103/JPN.JPN_169_17 |