Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
central nervous system
glucose transport across blood-brain barrier |
| gptkbp:alsoKnownAs |
gptkb:De_Vivo_disease
|
| gptkbp:cause |
gptkb:paroxysmal_exertion-induced_dyskinesia
epilepsy hypotonia intellectual disability spasticity ataxia speech delay |
| gptkbp:causedBy |
mutations in SLC2A1 gene
|
| gptkbp:diagnosedBy |
genetic testing
low glucose in cerebrospinal fluid |
| gptkbp:firstDescribed |
gptkb:Darryl_De_Vivo
1991 |
| https://www.w3.org/2000/01/rdf-schema#label |
GLUT1 deficiency syndrome
|
| gptkbp:ICD-10_code |
E74.8
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
606777
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
movement disorders
seizures developmental delay microcephaly |
| gptkbp:treatment |
gptkb:ketogenic_diet
|
| gptkbp:bfsParent |
gptkb:GLUT1_transporter
gptkb:glucose_transporter_1_(GLUT1) gptkb:Glucose_transporter gptkb:SLC2A1 |
| gptkbp:bfsLayer |
7
|