Term Name: | developmental and epileptic encephalopathy 13 |
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Synonyms: | DEE13, early infantile epileptic encephalopathy 13 |
Definition: | A developmental and epileptic encephalopathy characterized by onset of intractable seizures in the first year of life with impaired development or developmental regression after seizure onset that has_material_basis_in heterozygous mutation in the SCN8A gene on chromosome 12q13. |
Ontology: | Human Disease [DOID:0080445] ( DOID:0080445 ) |