A Challenging Diagnosis of Atypical Glut1-DS: A Case Report and Literature Review

A Challenging Diagnosis of Atypical Glut1-DS: A Case Report and Literature Review

Glucose transporter sort 1 deficiency syndrome (Glut1-DS) is a uncommon neurometabolic dysfunction attributable to mutations of the SLC2A1 gene. Paroxysmal exercise-induced dyskinesia is thought to be a consultant symptom of Glut1-DS. Paroxysmal non-kinesigenic dyskinesia is normally attributable to aberrations of the MR1 and KCNMA1 genes, however it additionally seems in Glut1-DS. We herein doc a …

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