developmental and epileptic encephalopathy 52

Summary

DOID:0080455 - developmental and epileptic encephalopathy 52

Disease Ontology Definition:A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures and global neurological development delay, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCN1B gene on chromosome 19q13.

Synonyms: DEE52, early infantile epileptic encephalopathy 52

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

: scn1b

MIM:

MIM:617350 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52; DEE52

MIM:617350 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52; DEE52

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

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

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