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Most patients with glucose transporter type 1 (GLUT1) deficiency syndrome (G1D) experience anticonvulsant-refractory epilepsy and abnormal cognitive and motor development.1 Ninety percent of patients with G1D harbor a causative loss-of-function… Click to show full abstract
Most patients with glucose transporter type 1 (GLUT1) deficiency syndrome (G1D) experience anticonvulsant-refractory epilepsy and abnormal cognitive and motor development.1 Ninety percent of patients with G1D harbor a causative loss-of-function mutation in the SLC2A1 gene; in the others, brain fluorodeoxyglucose (FDG) PET can confirm the diagnosis.
Keywords:
neurology;
deficiency;
glut1 deficiency
Journal Title: Neurology: Genetics
Year Published: 2020
Link to full text (if available)
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Journal Title: Neurology: Genetics
Year Published: 2020
Link to full text (if available)
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recommendations!