Visualize Submit Comment
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://www.ncbi.nlm.nih.gov/pubmed/24747641, https://pubmed.ncbi.nlm.nih.gov/30351409/
Xrefs

MIM:615871
Synonyms

DEE24 [EXACT]

early infantile epileptic encephalopathy 24 [EXACT]
Parent Relationships

is_a autosomal dominant disease

is_a developmental and epileptic encephalopathy
Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

Add an item to the term tracker