About   Help   FAQ
Disease Ontology Browser
developmental and epileptic encephalopathy 57 (DOID:0080284)
Alliance: disease page
Synonyms: DEE57; early infantile epileptic encephalopathy 57
Alt IDs: OMIM:617771
Definition: A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of refractory multifocal seizures, global developmental delay with hypotonia, variably impaired intellectual development, and poor or absent language that has_material_basis_in heterozygous mutation in the KCNT2 gene on chromosome 1q31.

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
MGI 6.22
The Jackson Laboratory