Article
GLUT1 deficiency syndrome into adulthood: a follow-up study.
Journal of neurology - 1 Mar 2014
Leen W G, Taher M, Verbeek M M, Kamsteeg E J, van de Warrenburg B P, Willemsen M A
Abstract excerpt
GLUT1 deficiency syndrome (GLUT1DS) is a treatable neurometabolic disorder in which glucose transport into the brain is disturbed. Besides the classic phenotype of intellectual disability, epilepsy, and movement disorders, other phenotypes are increasingly recognized. These include, for example, idiopathic generalized epilepsy and paroxysmal exercise-induced dyskinesia. Since the disorder has only been recognized...
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