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DO Term : developmental and epileptic encephalopathy 14 [DOID:0080439] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • OMIM:614959,
  • early infantile epileptic encephalopathy 14,
  • DEE14,
  • 614959
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