developmental and epileptic encephalopathy 81

Term ID

DOID:0112217

Synonyms

• DEE81
• early infantile epileptic encephalopathy 81

Definition

A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of severe refractory seizures, little developmental progress, cerebral atrophy, impaired myelination, thin corpus callosum, and progressive leukoencephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the DMXL2 gene on chromosome 15q21.2. (2)

References

• OMIM:618663

Ontology

Human Disease   ( DOID:0112217 )