developmental and epileptic encephalopathy 99
Information
- Disease name
- developmental and epileptic encephalopathy 99
- Disease ID
- DOID:0070385
- Description
- "A developmental and epileptic encephalopathy characterized by onset of seizures in early childhood that has_material_basis_in heterozygous mutation in the ATP1A3 gene on chromosome 19q13." [url:https\://pubmed.ncbi.nlm.nih.gov/33880529/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0112202
- Cross Reference ID (Disease Ontology)
- MIM:619606
- Exact Synonym (Disease Ontology)
- DEE99
- Exact Synonym (Disease Ontology)
- early infantile epileptic encephalopathy 99