DISEASES

Disease-gene associations mined from literature

Human genes for developmental and epileptic encephalopathy 26

Developmental and epileptic encephalopathy 26 [DOID:0080461]

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.

Synonyms:  developmental and epileptic encephalopathy 26,  DOID:0080461,  DEE26,  early infantile epileptic encephalopathy 26