Term Name: | developmental and epileptic encephalopathy 42 |
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Synonyms: | DEE42, early infantile epileptic encephalopathy 42 |
Definition: | A developmental and epileptic encephalopathy characterized by onset of seizures in the first hours or days of life and global developmental delay with severely impaired intellectual development that has_material_basis_in heterozygous mutation in the CACNA1A gene on chromosome 19p13. |
Ontology: | Human Disease [DOID:0080454] ( DOID:0080454 ) |