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A mouse model for Glut-1 haploinsufficiency
Human Molecular Genetics
Glut-1 deficiency syndrome (Glut-1 DS, OMIM #606777) is characterized by infantile seizures, developmental delay, acquired microcephaly and hypoglycorrhachia. It is caused by haploinsufficiency of the blood -brain barrier hexose carrier. Heterozygous mutations or hemizygosity of the GLUT-1 gene cause Glut-1 DS. We generated a heterozygous haploinsufficient mouse model by targeted disruption of the promoter and exon 1 regions of the mouse GLUT-1 gene. GLUT-1 1/2 mice have epileptiform dischargesdoi:10.1093/hmg/ddl032 pmid:16497725 fatcat:xfawj3h62ffu7gxktevxt6whfi