Abnormal coordination
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Autosomal dominant glut-1 deficiency syndrome and familial epilepsy.
|
11603379 |
2001 |
Abnormal social behavior
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Abnormality of metabolism/homeostasis
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Abnormality of red blood cells
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
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 |
Absence Epilepsy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Our study confirmed the role of SLC2A1 mutations in absence epilepsy with early onset.
|
26537434 |
2015 |
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 |
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 |
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 |
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 |
Absence Epilepsy
|
0.200 |
Biomarker
|
disease |
BEFREE |
Glut1 deficiency is a rare but treatable cause of childhood absence epilepsy with atypical features.
|
31035243 |
2019 |
Absence Epilepsy
|
0.200 |
Biomarker
|
disease |
BEFREE |
Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency.
|
23106342 |
2012 |
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 |
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 |
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 |
Absence Epilepsy
|
0.200 |
Biomarker
|
disease |
BEFREE |
Early-onset absence epilepsy: SLC2A1 gene analysis and treatment evolution.
|
23020086 |
2013 |
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 |
Absence Epilepsy
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|
Absence Seizures
|
0.420 |
GeneticVariation
|
phenotype |
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 |
Absence Seizures
|
0.420 |
Biomarker
|
phenotype |
CTD_human |
Autosomal dominant glut-1 deficiency syndrome and familial epilepsy.
|
11603379 |
2001 |
Absence Seizures
|
0.420 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Absence Seizures
|
0.420 |
Biomarker
|
phenotype |
CTD_human |
Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome.
|
10980529 |
2000 |
Absence Seizures
|
0.420 |
Biomarker
|
phenotype |
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 |
Absence Seizures
|
0.420 |
Biomarker
|
phenotype |
HPO |
|
|
|
Absence Seizures
|
0.420 |
Biomarker
|
phenotype |
CTD_human |
GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier.
|
9462754 |
1998 |