developmental and epileptic encephalopathy 26

Term ID

DOID:0080461

Synonyms

• DEE26
• early infantile epileptic encephalopathy 26

Definition

A developmental and epileptic encephalopathy characterized by onset in the first years of life of seizures, developmental delay, intellectual disability, poor speech, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KCNB1 gene on chromosome 20q13. https://www.ncbi.nlm.nih.gov/pubmed/25164438

References

• GARD:12391
• MIM:616056

Ontology

Human Disease   ( DOID:0080461 )