Glucose+Transporter+1+Deficiency+Syndrome

First described by Dr. De Vivo in 1991. This disease is sometimes referred to as De Vivo Disease. It is an epileptic encephalopathy which causes seizures with progressive psychomotor dysfunction. Paroxysmal exercised-induced dyskinesia's are also part of the spectrum (Dystonia 19 and 9). GLUT1 Deficiency is a rare and genetic disease. It is characterized by deficiency of a protein that's required for glucose to cross the blood-brain barrier. The most common symptom is seizures (epilepsy). This begins during the first few months of life. There are five types of seizures, tonic, clonic, myoclonic, atypical absence, atonic, and unclassified. GLUT1 also causes movement disorders, developmental delays, varying degrees of cognitive impairment, and speech and language abnormalities. GLUT1 is caused by mutations in the SLC2A1 gene. Also, it is inherited as an autosomal recessive trait. It cannot be treated with epilepsy treatments but has been treated successfully with a ketogenic diet. GLUT1 is caused by a mutation in the SLC2A1 gene, which is a gene that provides instructions for producing GLUT1. It transports glucose into cells from the blood, across the blood-brain barrier. Glucose is the main source of energy in the brain. There are more than a hundred mutations and deletions of this gene that cause GLUT1 deficiency.
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REFERENCES: http://www.ncbi.nlm.nih.gov/books/NBK1430/ http://www.seizure-journal.com/article/S1059-1311(13)00196-9/abstract http://onlinelibrary.wiley.com/store/10.1111/j.1469-8749.2007.00707.x/asset/j.1469-8749.2007.00707.x.pdf?v=1&t=ilmb0c3o&s=32be141d571b5c51e2da89ba764dadbfddd8e606 http://rarediseases.org/rare-diseases/glucose-transporter-type-1-deficiency-syndrome/ http://www.webmd.com/epilepsy/guide/types-of-seizures-their-symptoms https://ghr.nlm.nih.gov/gene/SLC2A1