Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
gptkb:neurological_disorder |
| gptkbp:affects |
brain
|
| gptkbp:associatedWith |
genetic mutations
PIK3CA gene mutation AKT3 gene mutation intractable seizures mTOR pathway dysregulation |
| gptkbp:cause |
gptkb:intellectual_disability
epilepsy developmental delay hemiparesis |
| gptkbp:characterizedBy |
enlargement of one cerebral hemisphere
|
| gptkbp:diagnosedBy |
gptkb:CT_scan
MRI |
| gptkbp:mayBeSporadic |
yes
|
| gptkbp:onset |
infancy
|
| gptkbp:prevalence |
rare
|
| gptkbp:treatment |
antiepileptic drugs
hemispherectomy |
| gptkbp:bfsParent |
gptkb:1q44_(AKT3)
|
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
hemimegalencephaly
|