developmental and epileptic encephalopathy 58

Term ID

DOID:0080285

Synonyms

• DEE58
• early infantile epileptic encephalopathy 58

Definition

A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of infantile spasms and refractory seizures, global developmental delay, and impaired intellectual development that has_material_basis_in heterozygous mutation in the NTRK2 gene on chromosome 9q21. https://www.ncbi.nlm.nih.gov/pubmed/29100083

References

• OMIM:617830

Ontology

Human Disease   ( DOID:0080285 )