Acetazolamide-responsive Episodic Ataxia Without Baseline Deficits or Seizures Secondary to GLUT1 Deficiency: A Case Report and Review of the Literature.

Abstract excerpt

INTRODUCTION: Glucose transporter type 1 deficiency syndrome (GLUT1 DS) is caused by impaired glucose transport across the blood-brain barrier and commonly presents as severe early onset epilepsy, developmental delay, and movement abnormalities. In rare instances, GLUT1 DS can present as a paroxysmal movement disorder without the other classic symptoms. Episodic ataxia (EA) secondary to GLUT1 DS has been...

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