developmental and epileptic encephalopathy 87

Term ID

DOID:0112221

Synonyms

• DEE87
• early infantile epileptic encephalopathy 87

Definition

A developmental and epileptic encephalopathy characterized by global developmental delay, severely impaired motor and cognitive development, hypotonia, and onset of frequent refractory seizures or infantile spasms between 6 and 15 months of age that has_material_basis_in heterozygous mutation in the CDK19 gene on chromosome 6q21. https://pubmed.ncbi.nlm.nih.gov/32330417/

References

• OMIM:618916

Ontology

Human Disease   ( DOID:0112221 )