|  Help  |  About  |  Contact Us

DO Term : developmental and epileptic encephalopathy 13 [DOID:0080445] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • DEE13,
  • 614558,
  • OMIM:614558,
  • early infantile epileptic encephalopathy 13
Quick Links:
 
Quick Links:
 

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents