|
DOID:0080462 - developmental and epileptic encephalopathy 7
Disease Ontology Definition:A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the KCNQ2 gene on chromosome 20q13.
Synonyms: KCNQ2-related epileptic encephalopathy, KCNQ2-related neonatal epileptic encephalopathy, early infantile epileptic encephalopathy 7,
Xenbase Genes
:
kcnq2
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a)