Article
A mouse model for Glut-1 haploinsufficiency.
Human molecular genetics - 1 Apr 2006
Wang Dong, Pascual Juan M, Yang Hong, Engelstad Kristin, Mao Xia, Cheng Jianfeng, Yoo Jong, Noebels Jeffrey L, De Vivo Darryl C
Abstract excerpt
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...
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