Microcephaly
|
0.480 |
Biomarker
|
disease |
HPO |
|
|
|
Microcephaly
|
0.480 |
Biomarker
|
disease |
BEFREE |
Glut 1 deficiency syndrome (DS) is defined by hypoglycorrhachia with normoglycemia, acquired microcephaly, episodic movements, and epilepsy refractory to standard antiepileptic drugs (AEDs).
|
22812641 |
2012 |
Microcephaly
|
0.480 |
Biomarker
|
disease |
BEFREE |
A GLUT-1 defect results in the Glucose-Transporter-Protein Syndrome (GTPS), characterized by infantile epilepsy, developmental delay, and acquired microcephaly.
|
10323476 |
1999 |
Microcephaly
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
Glucose transporter type 1 deficiency syndrome (Glut-1DS) is caused by autosomal dominant haplodeficiency or autosomal recessive with homozygous mutation of the glucose transporter 1 (SLC2A1) gene and is characterized by severe seizures, developmental delay, ataxia and acquired microcephaly.
|
22814174 |
2012 |
Microcephaly
|
0.480 |
Biomarker
|
disease |
BEFREE |
Glucose transporter type I deficiency syndrome (GLUT-1 DS) is an inborn error of glucose transport characterized by seizures, developmental delay, spasticity, acquired microcephaly and ataxia.
|
19515520 |
2010 |
Microcephaly
|
0.480 |
Biomarker
|
disease |
BEFREE |
GLUT-1 deficiency syndrome (GLUT-1 DS) is a disorder of cerebral glucose transport associated with early infantile epilepsy and microcephaly.
|
21366555 |
2011 |
Microcephaly
|
0.480 |
Biomarker
|
disease |
CTD_human |
GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier.
|
9462754 |
1998 |
Microcephaly
|
0.480 |
Biomarker
|
disease |
BEFREE |
In humans, Glut-1 deficiency causes acquired microcephaly, seizures and ataxia, which are recapitulated in our Glut-1 haploinsufficient mouse model.
|
19591936 |
2009 |
Microcephaly
|
0.480 |
Biomarker
|
disease |
CTD_human |
Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome.
|
10980529 |
2000 |
Microcephaly
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SLC2A1, encoding the glucose transporter type 1 (Glut1), cause a wide range of neurological disorders: (1) classical Glut1 deficiency syndrome (Glut1-DS) with an early onset epileptic encephalopathy including a severe epilepsy, psychomotor delay, ataxia and microcephaly, (2) paroxysmal exercise-induced dyskinesia (PED) and (3) various forms of idiopathic/genetic generalized epilepsies such as different forms of absence epilepsies.
|
25022942 |
2014 |
Microcephaly
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
The comparison of the clinical features between the 19 SLC2A1 mutated and the 226 non-mutated patients revealed that the onset of epilepsy within the first year of life (when associated with developmental delay or other neurological manifestations), the association of epilepsy with PD and acquired microcephaly are more common in mutated subjects.
|
30895386 |
2019 |