GLUT1-deficiency syndrome: Report of a four-generation Norwegian family with a mild phenotype

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

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

Willemijn G. Leen, Jörg Klepper, Marcel M. Verbeek et al. · Brain · 2010 · 413 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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

Glen Seidner, Marcela Garcia Alvarez, Jih‐I Yeh et al. · Nature Genetics · 1998 · 379 citations

Life Sciences, Genetics, Neuroscience +9

GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak

Yvonne Weber, Alexander Storch, Thomas V. Wuttke et al. · Journal of Clinical Investigation · 2008 · 357 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1

Arvid Suls, Peter Dedeken, Karolien Goffin et al. · Brain · 2008 · 340 citations · Full text

Medicine, Genetics, Neurology +17