Glut1 deficiency (G1D): epilepsy and metabolic dysfunction in a mouse model of the most common human phenotype. Neurobiology of Disease 2012;48(1):92-101.Marin-Valencia I, Good LB, Ma Q, Duarte J, Bottiglieri T, Sinton CM et al. Glut1 deficiency (G1D): epilepsy and metabolic ...
葡萄糖转运蛋白1缺陷综合征 葡萄糖转运蛋白 1 缺陷综合征( glucose transporter type 1 deficiency syndrome, GLUT1-DS) 是一种常染色体显性遗传病。于 1991年由De Vivo首先描述 ,其出生发病率估计为 90,000 分之一至 24,300 分之一。葡...
[2] Seidner G, Alvarez MG, Yeh JI, et al. GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. Nat Genet 1998;18:188–191. [3] Suls A, Mullen SA, Weber YG, et al. Early-onset absence epilepsy caused by mutations in the glucose transporte...
(Springer,2011).Leen,W.G.etal.GLUT1deficiencysyndromeintoadulthood:afollow-upstudy.J.Neurol.261,589-599(2014).Suls,A.etal.Early-onsetabsenceepilepsycausedbymutationsintheglucosetransporterGLUT1.Ann.Neurol.66,415-419(2009).Amann,T.&Hellerbrand,C.GLUT1asatherapeutictargetinhepatocellularcarcinoma....
GLUT1 deficiency syndrome should not really be regarded as a clinical feature of known epileptic syndromes (myoclonus-astatic epilepsy, absences epilepsy, etc.); rather GLUT1DS is a broad, complex syndrome that includes seizures with specific semiology possibly linked to known epileptic syndromes. 3.2...
GLUT-1 deficiency syndrome masquerading as idiopathic generalized epilepsy To report the case of a child with short absences and occasional myoclonias since infancy who was first diagnosed with an idiopathic generalized epilepsy, ... E Roulet-Perez,D Ballhausen,L Bonafé,... - 《Epilepsia》 被引...
A prime example is the relatively recently recognised GLUT1-deficiency syndrome [50], which results from mutations in the gene that expresses GLUT1. An impaired function of the GLUT1 protein reduces the amount of glucose available to brain cells affecting brai...
The classical ketogenic diet has been used for refractory childhood epilepsy for decades. It is also the treatment of choice for disorders of brain energy metabolism, such as Glut1 deficiency syndrome. Novel ketogenic diets such as the modified Atkins diet and the low glycemic index treatment have...
Glucose transporter type 1 (GLUT-1) deficiency syndrome can be mistaken for primary generalized epilepsy In order to develop a biomimetic polymer for cell recognition, poly [3-O-(4′-vinylbenzyl)-D-glucose] (PVG) and different types of glucose transport (GLUT)-carrying cells, namely, HepG2 ...
The glucose transporter GLUT1 catalyses facilitative diffusion of glucose into erythrocytes and is responsible for glucose supply to the brain and other organs. Dysfunctional mutations may lead to GLUT1 deficiency syndrome, whereas overexpression of GLUT