developmental and epileptic encephalopathy 90

Term ID

DOID:0070381

Synonyms

• DEE90

Definition

A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first days or months of life that has_material_basis_in hemizygous or heterozygous mutation in the FGF13 gene on chromosome Xq26. https://pubmed.ncbi.nlm.nih.gov/33245860/

References

• OMIM:301058

Ontology

Human Disease   ( DOID:0070381 )