Article
Focal epilepsy in glucose transporter type 1 (Glut1) defects: case reports and a review of literature.
Journal of neurology - 1 Oct 2014
Wolking Stefan, Becker Felicitas, Bast Thomas, Wiemer-Kruel Adelheid, Mayer Thomas, Lerche Holger, Weber Yvonne G
Abstract excerpt
Mutations in SLC2A1, encoding the glucose transporter type 1 (Glut1), cause a wide range of neurological disorders: (1) classical Glut1 deficiency syndrome (Glut1-DS) with an early onset epileptic encephalopathy including a severe epilepsy, psychomotor delay, ataxia and microcephaly, (2) paroxysmal exercise-induced dyskinesia (PED) and (3) various forms of idiopathic/genetic generalized epilepsies such as...
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