Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy

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Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

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Defective Glucose Transport across the Blood-Brain Barrier as a Cause of Persistent Hypoglycorrhachia, Seizures, and Developmental Delay

Darryl C. De Vivo, Rosario Rich Trifiletti, Ronald I. Jacobson et al. · New England Journal of Medicine · 1991 · 791 citations · Full text

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GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier

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