| Metadata | |
|---|---|
| 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  | 
			    
                        
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| Synonyms | 
                                
                                    
                                         DEE24 [EXACT] early infantile epileptic encephalopathy 24 [EXACT]  | 
                        
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