The delivery of many potentially therapeutic and diagnostic compounds to specific areas of
the brain is restricted by brain barriers, of which the most well known are the blood–brain …

Paroxysmal movement disorders are a relatively rare and heterogenous group of conditions
manifesting as episodic dyskinesia lasting a brief duration. Three forms are clearly …

Objectives: To provide a revised version of earlier guidelines published in 2006.
Background: Primary dystonias are chronic and often disabling conditions with a …

PURPOSE: In this Argentinean retrospective, collaborative, multicenter study, we examine
the efficacy and tolerability of the ketogenic diet (KD) for different epilepsy syndromes …

Abstract Objective: The Glut1 deficiency syndrome (Glut1 DS) phenotype has expanded
dramatically since first described in 1991. Hypoglycorrhachia and decreased erythrocyte 3 …

Epilepsy is a common and very heterogeneous neurologic disorder. Genetic factors are
likely to play a role in most cases, either because the underlying cause of epilepsy is …

Objective: Mutations in SLC2A1, encoding the glucose transporter type 1 (GLUT1), cause a
broad spectrum of neurologic disorders including classic GLUT1 deficiency syndrome …

The hereditary stomatocytoses are a series of dominantly inherited hemolytic anemias in
which the permeability of the erythrocyte membrane to monovalent cations is pathologically …

The last 25 years have seen remarkable advances in our understanding of the genetic
etiologies of dystonia, new approaches into dissecting underlying pathophysiology, and …

Heterozygous mutations in the SLC2A1 gene, which encodes glucose transport protein type
1 (GLUT1), are responsible for GLUT1 deficiency, leading to cerebral energy failure …