early infantile epileptic encephalopathy
GPTKB entity
Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:alsoKnownAs |
Ohtahara syndrome
|
| gptkbp:cause |
genetic mutations
structural brain abnormalities |
| gptkbp:complication |
intellectual disability
developmental delay |
| gptkbp:diagnosedBy |
gptkb:EEG
genetic testing |
| gptkbp:firstDescribed |
1976
|
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
early infantile epileptic encephalopathy
|
| gptkbp:ICD-10_code |
G40.4
|
| gptkbp:namedAfter |
Shunsuke Ohtahara
|
| gptkbp:OMIM |
308350
|
| gptkbp:onset |
infancy
|
| gptkbp:prognosis |
poor
|
| gptkbp:specialty |
neurology
|
| gptkbp:symptom |
seizures
|
| gptkbp:treatment |
supportive care
antiepileptic drugs |
| gptkbp:bfsParent |
gptkb:GABRA1_gene
|
| gptkbp:bfsLayer |
7
|