developmental and epileptic encephalopathy 97

Term ID

DOID:0070383

Synonyms

• DEE97
• early infantile epileptic encephalopathy 97

Definition

A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the CELF2 gene on chromosome 10p14. https://pubmed.ncbi.nlm.nih.gov/33131106/

References

• OMIM:619561

Ontology

Human Disease   ( DOID:0070383 )