developmental and epileptic encephalopathy 47

Term ID

DOID:0080425

Synonyms

• DEE47
• early infantile epileptic encephalopathy 47

Definition

A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of intractable seizures, developmental regression after seizure onset, intellectual disability, and neurologic impairment that has_material_basis_in heterozygous mutation in the FGF12 gene on chromosome 3q28. (2)

References

• OMIM:617166

Ontology

Human Disease   ( DOID:0080425 )