Term Name: | developmental and epileptic encephalopathy 78 |
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Synonyms: | DEE78, early infantile 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. |
Ontology: | Human Disease [DOID:0112214] ( DOID:0112214 ) |