About   Help   FAQ
Disease Ontology Browser
developmental and epileptic encephalopathy 7 (DOID:0080462)
Alliance: disease page
Synonyms: early infantile epileptic encephalopathy 7; KCNQ2-related epileptic encephalopathy; KCNQ2-related neonatal epileptic encephalopathy
Alt IDs: OMIM:613720, ORDO:439218
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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory