Article
Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency.
Neurology - 3 Aug 2010
Mullen S A, Suls A, De Jonghe P, Berkovic S F, Scheffer I E
Abstract excerpt
BACKGROUND: Familial glucose transporter type 1 (GLUT1) deficiency due to autosomal dominant inheritance of SLC2A1 mutations is associated with paroxysmal exertional dyskinesia; epilepsy and intellectual disability occur in some family members. We recently demonstrated that GLUT1 deficiency occur...
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