Phenotypic and Genotypic Spectrum of Glucose Transporter-1 Deficiency Syndrome.
Danielle K BourqueDawn CordeiroGraeme A M NimmoJeff KobayashiSaadet Mercimek-MahmutogluPublished in: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques (2021)
We present 13 patients with GLUT1DS in the pediatric patient population. Atypical clinical features such as hemiplegia and hemiplegic migraine were present in an infant; there was a high prevalence of absence seizures and movement disorders in our patient population. We report an increased number of patients with GLUT1DS since the introduction of next-generation sequencing in the clinical settings. We believe that GLUT1DS should be included in the differential diagnosis of seizures, movement disorders, and hemiplegic migraine.