developmental and epileptic encephalopathy 104

Term ID

DOID:0070390

Synonyms

• DEE104
• early infantile epileptic encephalopathy 104

Definition

A developmental and epileptic encephalopathy characterized by developmental delay in the first few months of life and drug-resistant focal and generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the ATP6V0A1 on chromosome 17q21. https://pubmed.ncbi.nlm.nih.gov/34909687/

References

• MIM:619970

Ontology

Human Disease   ( DOID:0070390 )