SLC2A1 and Its Related Epileptic Phenotypes

Abstract

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 in the blood–brain barrier. GLUT1DS includes a broad spectrum of neurologic disturbances, from severe encephalopathy with developmental delay, to epilepsy, movement disorders, acquired microcephaly and atypical mild forms. For diagnosis, lumbar puncture and genetic analysis are necessary and complementary; an immediate response to ketogenic diet supports the diagnosis in case of high suspicion of disease and negative exams. The ketogenic diet is the first-line treatment and should be established at the initial stages of disease.

Importance of GLUT Transporters in Disease Diagnosis and Treatment

“…GLUT1 deficiency syndrome has also been linked with epilepsy, along with other disorders like microcephaly and developmental delay. A ketogenic diet has been found to be an effective treatment for GLUT1 deficiency and was recommended as a first line treatment for this disorder [ 94 ].…”