GLUT1 deficiency syndrome

Disease modifying treatment available:
Time critical diagnosis and management:
Lateralising:

Definition

None



Aetiology

None

Associated genes

Gene
SLC2A1 Search ClinVar Search ClinGen


Clinical features


Early onset absence seizures are a key feature. Paroxysmal exercise-induced dyskinesias can occur. Hunger may be recognised as a seizure precipitant.

GLUT1 deficiency syndrome may cause the following:




Investigations


Lumbar puncture demonstrates low CSF glucose and lactate.

None


Laboratory Investigation Result

Treatment


None




Research


Open questions

None