Article

Molecular genetics of GLUT1DS Italian pediatric cohort: 10 novel related-disease variants and structural analysis

2022-09-27

Abstract excerpt

GLUT1 deficiency syndrome (GLUT1DS1; OMIM #606777) is a rare genetic metabolic disease, characterized by infantile-onset epileptic encephalopathy, global developmental delay, progressive microcephaly and movement disorders (e.g. spasticity and dystonia). It is caused by heterozygous mutations in the SLC2A1 gene, which encodes the GLUT1 protein, a glucose transporter across the blood-brain barrier (BBB). Most comm...

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Literature Corpus work: e8848551-2678-5aec-a101-2f869c2e4cfd
DOI: 10.1101/2022.09.26.509448

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