Metadata | |
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ID | DOID:0080429 |
Name | developmental and epileptic encephalopathy 24 |
Definition | A developmental and epileptic encephalopathy characterized by onset in infancy of refactory seizures, severely impaired global development, intellectual disability, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the HCN1 gene on chromosome 5p12. https://pubmed.ncbi.nlm.nih.gov/30351409/, https://www.ncbi.nlm.nih.gov/pubmed/24747641 |
Xrefs | |
Synonyms |
DEE24 [EXACT] early infantile epileptic encephalopathy 24 [EXACT] |
Parent Relationships |