SLC2A1 and Its Related Epileptic Phenotypes

Glucose transporter type 1 deficiency syndrome (GLUT1DS) is caused by heterozygous, mostly de novo, mutations in SLC2A1 gene encoding the glucose transporter GLUT1, the most relevant energy transporter of the brain through the blood-brain barrier. GLUT1DS includes a broad spectrum of neurologic disturbances, from severe encephalopathy with developmental delay, epilepsy, movement disorders and acquired microcephaly to atypical mild forms. For diagnosis, lumbar puncture and genetic analysis are necessary and complementary; an immediate response to ketogenic diet supports diagnosis in case of high suspicion of disease and negative exams. The ketogenic diet (KD) is the first line treatment and should be established at the initial stages of disease.