SLC2A1, solute carrier family 2 member 1, 6513

N. diseases: 687; N. variants: 76
Disease: Absence Epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.200 Biomarker disease BEFREE Glut1 deficiency is a rare but treatable cause of childhood absence epilepsy with atypical features. 31035243 2019
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.200 GeneticVariation disease BEFREE Mutations in SLC2A1 gene can cause many clinical syndromes, including glucose transporter type 1 deficiency syndrome and many types of epilepsy syndromes such as childhood absence epilepsy and myoclonic-atonic epilepsy, etc. 31045803 2019
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.200 GeneticVariation disease BEFREE A special form of transient movement disorders, the paroxysmal exertion-induced dyskinesia (PED), absence epilepsies particularly with an early onset absence epilepsy (EOAE) and childhood absence epilepsy (CAE), myoclonic astatic epilepsy (MAE), episodic choreoathetosis and spasticity (CSE), and focal epilepsy can be based on a Glut1 defect. 30076047 2019
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.200 GeneticVariation disease BEFREE Pathogenic variants of SLC2A1 leading to autosomal-dominant GLUT1 deficiency account for up to 1% of cases, increasing to 10% of those with absence seizures starting before age 4 years. 29741207 2018
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.200 GeneticVariation disease BEFREE Our study confirmed the role of SLC2A1 mutations in absence epilepsy with early onset. 26537434 2015
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.200 Biomarker disease BEFREE Early-onset absence epilepsy: SLC2A1 gene analysis and treatment evolution. 23020086 2013
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.200 Biomarker disease BEFREE Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency. 23106342 2012
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.200 Biomarker disease BEFREE We propose that these children serve to expand the phenotype of GLUT-1 DS and suggest that this condition should be considered as a cause of refractory absence seizures in childhood. 21366555 2011
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.200 Biomarker disease BEFREE Mutations in SLC2A1, encoding the glucose transporter type 1 (GLUT1), cause a broad spectrum of neurologic disorders including classic GLUT1 deficiency syndrome, paroxysmal exercise-induced dyskinesia (PED, DYT18), and absence epilepsy. 21832227 2011
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.200 GeneticVariation disease BEFREE This family study analyses the phenotypes in 2 kindreds segregating SLC2A1 mutations identified through probands with early-onset absence epilepsy. 20574033 2010
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.200 GeneticVariation disease BEFREE Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation. 20621801 2010
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.200 Biomarker disease BEFREE These findings suggest GLUT1 deficiency underlies a significant proportion of early-onset absence epilepsy, which has both genetic counseling and treatment implications because the ketogenic diet is effective in GLUT1 deficiency. 19798636 2009
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.200 Biomarker disease BEFREE These five syndromes differ markedly in their etiologies and clinical features, and were selected for discussion because the seizures are generated at a different 'level' of neural dysfunction in each case: (1) mutation of a specific family of ion (potassium) channels in benign familial neonatal convulsions; (2) deficiency of the protein that transports glucose into the CNS in Glut-1 deficiency; (3) aberrantly formed local neural circuits in focal cortical dysplasia; (4) synaptic reorganization of limbic circuitry in temporal lobe epilepsy; and (5) abnormal thalamocortical circuit function in childhood absence epilepsy. 16437061 2006
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.200 Biomarker disease HPO