OBO ID: DOID:0080439
Term Name: developmental and epileptic encephalopathy 14 Search Ontology:
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 developmental and epileptic encephalopathy 14 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KCNT1 Developmental and epileptic encephalopathy 14 614959
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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