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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
:
scn1b
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a)