developmental and epileptic encephalopathy 18

Term ID

DOID:0080413

Synonyms

• DEE18
• early infantile epileptic encephalopathy 18

Definition

A developmental and epileptic encephalopathy characterized by absence of developmental milestones, dysmorphic facial features, refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the SZT2 gene on chromosome 1p34. https://www.ncbi.nlm.nih.gov/pubmed/23932106

References

• GARD:13676
• OMIM:615476

Ontology

Human Disease   ( DOID:0080413 )