developmental and epileptic encephalopathy 25

Term ID

DOID:0080453

Synonyms

• DEE25
• developmental and epileptic encephalopathy 25, with amelogenesis imperfecta
• early infantile epileptic encephalopathy 25

Definition

A developmental and epileptic encephalopathy characterized by onset in early infancy of refractory seizures, global developmental delay with intellectual disability, persistent neurologic symptoms, and dental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SLC13A5 gene on chromosome 17p13. (2)

References

• GARD:12901
• OMIM:615905

Ontology

Human Disease   ( DOID:0080453 )