DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for developmental and epileptic encephalopathy 13

Developmental and epileptic encephalopathy 13 [DOID:0080445]

A developmental and epileptic encephalopathy characterized by onset of intractable seizures in the first year of life with impaired development or developmental regression after seizure onset that has_material_basis_in heterozygous mutation in the SCN8A gene on chromosome 12q13.

Synonyms:  developmental and epileptic encephalopathy 13,  DOID:0080445,  DEE13,  early infantile epileptic encephalopathy 13

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.