developmental and epileptic encephalopathy 26

Summary

DOID:0080461 - developmental and epileptic encephalopathy 26

Disease Ontology 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.

Synonyms: DEE26, early infantile epileptic encephalopathy 26

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: kcnb1

MIM:

MIM:616056 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 26; DEE26

MIM:616056 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 26; DEE26

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), developmental and epileptic encephalopathy (is_a)