Evaluation of non‐coding variation in GLUT1 deficiency

Aim Loss‐of‐function mutations in SLC2A1, encoding glucose transporter‐1 (GLUT‐1), lead to dysfunction of glucose transport across the blood–brain barrier. Ten percent of cases with hypoglycorrhachia (fasting cerebrospinal fluid [CSF] glucose

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Bibliographic Details
Published in:Developmental medicine and child neurology 2016-12, Vol.58 (12), p.1295-1302
Main Authors: Liu, Yu‐Chi, Lee, Jia Wei Audrey, Bellows, Susannah T, Damiano, John A, Mullen, Saul A, Berkovic, Samuel F, Bahlo, Melanie, Scheffer, Ingrid E, Hildebrand, Michael S, Ryan, Monique M., Leventer, Richard J., Freeman, Jeremy L., Mackay, Mark T., Hayman, Michael, Rodriguez‐Casero, Victoria, Subramanian, Gopi, Webster, Richard, Sadleir, Lynette G.
Format: Article
Language:English
Subjects:
Adult
Carbohydrate Metabolism, Inborn Errors - cerebrospinal fluid
Carbohydrate Metabolism, Inborn Errors - genetics
Child, Preschool
Epilepsy - cerebrospinal fluid
Epilepsy - genetics
Exome
Female
Glucose - cerebrospinal fluid
Glucose Transporter Type 1 - genetics
Humans
Infant
Male
Monosaccharide Transport Proteins - cerebrospinal fluid
Monosaccharide Transport Proteins - deficiency
Monosaccharide Transport Proteins - genetics
Pedigree
Sequence Analysis
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Description
Summary:Aim Loss‐of‐function mutations in SLC2A1, encoding glucose transporter‐1 (GLUT‐1), lead to dysfunction of glucose transport across the blood–brain barrier. Ten percent of cases with hypoglycorrhachia (fasting cerebrospinal fluid [CSF] glucose
ISSN:0012-1622
1469-8749
DOI:10.1111/dmcn.13163