developmental and epileptic encephalopathy 37

Term ID

DOID:0080435

Synonyms

• DEE37
• early infantile epileptic encephalopathy 37

Definition

A developmental and epileptic encephalopathy characterized by onset of intractable seizures or abnormal movement in the first years of life and developmental delay or regression after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the FRRS1L gene (604574) on chromosome 9q31. https://www.ncbi.nlm.nih.gov/pubmed/27236917

References

• MIM:616981

Ontology

Human Disease   ( DOID:0080435 )