GLUT1: Difference between revisions
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===GLUT1 Deficiency Syndrome=== | ===GLUT1 Deficiency Syndrome=== | ||
GLUT1 deficiency syndrome is a autosomal-dominant genetic condition which involves a mutation in SLC2A1, the gene that codes for the GLUT1 transporter. Symptoms of GLUT1 deficiency syndrome develop within the first few months of life and manifest themselves neurologically. Symptoms can include seizures, involuntary eye movements, microcephaly, developmental delays, intellectual disabilities, spasticity, or ataxia.<ref>PMID: | GLUT1 deficiency syndrome is a autosomal-dominant genetic condition which involves a mutation in SLC2A1, the gene that codes for the GLUT1 transporter. Symptoms of GLUT1 deficiency syndrome develop within the first few months of life and manifest themselves neurologically. Symptoms can include seizures, involuntary eye movements, microcephaly, developmental delays, intellectual disabilities, spasticity, or ataxia.<ref>PMID:20301603</ref> | ||
===Cancer=== | ===Cancer=== | ||
