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Summary Literature (0)
DOID:0080439 - developmental and epileptic encephalopathy 14

Disease Ontology 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.

Synonyms: DEE14, early infantile epileptic encephalopathy 14

Xenbase Genes : kcnt1


MIM:
MIM:614959 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14; DEE14

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), developmental and epileptic encephalopathy (is_a)