Treatment of myoclonic-atonic epilepsy caused by SLC2A1 de novo mutation with ketogenic diet
Sign Up to like & getrecommendations! Published in 2019 at "Medicine"
DOI: 10.1097/md.0000000000015428
Abstract: Rationale: The SLC2A1 gene encodes glucose transporter 1 on blood–brain barrier, which plays an important role in the energy supply for neurons. Mutations in SLC2A1 gene can cause many clinical syndromes, including glucose transporter type… read more here.
Keywords: myoclonic atonic; epilepsy; atonic epilepsy; ketogenic diet ... See more keywords
G404(P) Detection rate of slc2a1 gene variants causing glucose transporter 1 deffiency syndrome in patients with childhood onset epilepsy
Sign Up to like & getrecommendations! Published in 2017 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2017-313087.397
Abstract: Background SLC2A1 gene is the gene gives instruction for production of a protein called Glucose transporter 1( GLUT1). Alterations (variants) on this gene affect the production of enough amounts and reduce function of GLUT1 protein.… read more here.
Keywords: slc2a1 gene; glut1 deficiency; glucose transporter; gene ... See more keywords