developmental and epileptic encephalopathy 93

Term ID

DOID:0112275

Synonyms

• DEE93
• IECEE3
• infantile or early childhood epileptic encephalopathy 3

Definition

A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development that has_material_basis_in heterozygous mutation in the ATP6V1A gene on chromosome 3q13.31. https://pubmed.ncbi.nlm.nih.gov/29668857/

References

• MIM:618012

Ontology

Human Disease   ( DOID:0112275 )