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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
Xrefs

OMIM:615871

Synonyms

DEE24 [EXACT]

early infantile epileptic encephalopathy 24 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal dominant disease

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