| Metadata | |
|---|---|
| ID | DOID:0112214 |
| Name | developmental and epileptic encephalopathy 78 |
| Definition | A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of refractory seizures followed by severely impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA2 gene on chromosome 4p12. https://pubmed.ncbi.nlm.nih.gov/29422393/, https://pubmed.ncbi.nlm.nih.gov/29961870/ |
| Xrefs | |
| Synonyms |
DEE78 [EXACT] early infantile epileptic encephalopathy 78 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |