developmental and epileptic encephalopathy 69

Term ID

DOID:0112205

Synonyms

• DEE69
• early infantile epileptic encephalopathy 69

Definition

A developmental and epileptic encephalopathy characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development that has_material_basis_in heterozygous mutation in the CACNA1E gene on chromosome 1q25.3. https://pubmed.ncbi.nlm.nih.gov/30343943/

References

• MIM:618285

Ontology

Human Disease   ( DOID:0112205 )