KEGG   VARIANT: 6513v1
Entry
6513v1                      Variant                                
Name
SLC2A1 mutation
Type
Loss of function
Gene
SLC2A1  solute carrier family 2 member 1 [KO:K07299]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 138140
Network
nt06535  Efferocytosis
Disease
H00232  Hereditary stomatocytosis
H00808  Idiopathic generalized epilepsies
H00836  GLUT1 deficiency syndrome
Reference
PMID:1714544
  Authors
De Vivo DC, Trifiletti RR, Jacobson RI, Ronen GM, Behmand RA, Harik SI
  Title
Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay.
  Journal
N Engl J Med 325:703-9 (1991)
DOI:10.1056/NEJM199109053251006
Reference
  Authors
Weber YG, Storch A, Wuttke TV, Brockmann K, Kempfle J, Maljevic S, Margari L, Kamm C, Schneider SA, Huber SM, Pekrun A, Roebling R, Seebohm G, Koka S, Lang C, Kraft E, Blazevic D, Salvo-Vargas A, Fauler M, Mottaghy FM, Munchau A, Edwards MJ, Presicci A, Margari F, Gasser T, Lang F, Bhatia KP, Lehmann-Horn F, Lerche H
  Title
GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.
  Journal
J Clin Invest 118:2157-68 (2008)
DOI:10.1172/JCI34438
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