Search Ontology:
Human Disease

developmental and epileptic encephalopathy 14

Term ID
DOID:0080439
Synonyms
  • DEE14
  • early infantile epileptic encephalopathy 14
Definition
A developmental and epileptic encephalopathy characterized by refractory focal seizures developing by 6 months of age and arrest of psychomotor development that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34. https://www.ncbi.nlm.nih.gov/pubmed/23086397
References
Ontology
Human Disease   ( DOID:0080439 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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