GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy.


Abstract

Our study shows that GLUT1 defects are a rare cause of classic IGE. SLC2A1 screening should be considered in IGE featuring absence epilepsies with onset from early childhood to adult life, because this diagnosis may have important implications for treatment and genetic counseling.


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Publication date

2012-02-21


Journal

Neurology
Neurology (1526-632X)

Journal topics


Language

Eng.


Copyright

Neurology

Muscular and Neurodegenerative Diseases Unit, G. Gaslini Institute, University of Genova, Genova, Italy.


Release reference

Neurology. 2012 Feb;78(8):557-62



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