developmental and epileptic encephalopathy 98

Term ID

DOID:0070384

Synonyms

• DEE98
• early infantile epileptic encephalopathy 98

Definition

A developmental and epileptic encephalopathy characterized by onset of seizures in the first decade associated with variable global developmental delay that has_material_basis_in heterozygous mutation in the ATP1A2 gene on chromosome 1q23. https://pubmed.ncbi.nlm.nih.gov/33880529/

References

• OMIM:619605

Ontology

Human Disease   ( DOID:0070384 )