Developmental And Epileptic Encephalopathy 32
Disease ID: disease_node_16189
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| Dbxref | MIM:616366 |
|---|---|
| Subclassof | DOID_0050736, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE32, early infantile epileptic encephalopathy 32 |
| Doid Label | developmental and epileptic encephalopathy 32 |
| Doid Description | A developmental and epileptic encephalopathy characterized by seizure onset between 5 and 17 months of age resulting in residual neurologic deficits, in some patients seizures may remit or respond to drug treatment, and that has_material_basis_in heterozygous mutation in the KCNA2 gene on chromosome 1p13. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16189 |
| Doid Id | DOID_0080416 |
| Label | Developmental And Epileptic Encephalopathy 32 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Developmental And Epileptic Encephalopathy(ID:disease_node_16165) (Disease)