developmental and epileptic encephalopathy 101

Term ID

DOID:0070387

Synonyms

• DEE101
• early infantile epileptic encephalopathy 101

Definition

A developmental and epileptic encephalopathy characterized by early infantile epileptic encephalopathy and severe global developmental delay that has_material_basis_in homozygous mutation in the GRIN1 gene on chromosome 9q34. https://pubmed.ncbi.nlm.nih.gov/34611970/

References

• MIM:619814

Ontology

Human Disease   ( DOID:0070387 )