early infantile epileptic encephalopathy 3
GPTKB entity
Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
|
| gptkbp:alsoKnownAs |
EIEE3
Ohtahara syndrome, SLC25A22-related |
| gptkbp:firstDescribed |
2006
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:SLC25A22
|
| gptkbp:OMIM |
609304
|
| gptkbp:onset |
neonatal period
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
gptkb:Epilepsy
gptkb:intellectual_disability hypotonia spasticity movement disorders seizures developmental delay microcephaly feeding difficulties abnormal EEG |
| gptkbp:treatment |
supportive care
antiepileptic drugs |
| gptkbp:bfsParent |
gptkb:SLC25A22
|
| gptkbp:bfsLayer |
8
|
| https://www.w3.org/2000/01/rdf-schema#label |
early infantile epileptic encephalopathy 3
|