Glucose Transporter Type 1 Deficiency Syndrome (GLUT1DS) is a rare seizure disorder with a range of neurologic findings.
Pathogenesis: reduced glucose availability in the brain associated with defective glucose transport over the blood-brain barrier (BBB)
Genetic basis: mutations in SLC2A1 (at 1p34.2; SLC2 = solute carrier family 2)
Clinical features
(1) early onset epilepsy (absence, myoclonic, focal, atonic, other)
(2) movement disorders (paroxysmal episodic dyskinesia, paroxysmal eye movements, chorea, etc)
(3) cognitive impairment
(4) variable microcephaly
(5) variable ataxia
(6) variable hypotonia
(7) variable dysarthria
(8) positive response to a ketogenic diet
