Variety of symptoms of GLUT1 deficiency syndrome in three-generation family

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

Life Sciences, Neurology, Neuroscience +15

Early‐onset absence epilepsy caused by mutations in the glucose transporter GLUT1

Arvid Suls, Saul A. Mullen, Yvonne Weber et al. · Annals of Neurology · 2009 · 297 citations

Medicine, Genetics, Molecular Genetics +17

The spectrum of movement disorders in Glut‐1 deficiency

Roser Pons, Abbie Collins, Michael Rotstein et al. · Movement Disorders · 2010 · 174 citations

Medicine, Neurology, Nutritional Sciences +11

Glucose transporter type I deficiency syndrome: Epilepsy phenotypes and outcomes

Amanda W. Pong, Brianna R. Geary, Kris M. Engelstad et al. · Epilepsia · 2012 · 170 citations

Medicine, Neurology, Neuroscience +12

Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency

Saul A. Mullen, Arvid Suls, Peter De Jonghe et al. · Neurology · 2010 · 159 citations

Life Sciences, Genetics, Molecular Genetics +17