Understanding the Spectrum of SLC2A1-Associated Disorders

Affiliations

¹ Division of Neurology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL; and Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.

Comment

Marytery Fajardo et al. Pediatr Neurol Briefs. 2017 Feb.

. 2017 Feb;31(2):4.

doi: 10.15844/pedneurbriefs-31-2-1.

¹ Division of Neurology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL; and Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.

Abstract

Investigators from the Danish Epilepsy Center the frequency of SLC2A1 mutations in a cohort of patients with different types of epilepsies.

Keywords: Epilepsy; GLUT1; SLC2A1.

The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.
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