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Summary Literature (0)
DOID:0080462 - developmental and epileptic encephalopathy 7


Disease Ontology Definition:A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the KCNQ2 gene on chromosome 20q13.

Synonyms: KCNQ2-related epileptic encephalopathy, KCNQ2-related neonatal epileptic encephalopathy, early infantile epileptic encephalopathy 7

Xenbase Genes : kcnq2


OMIM:
OMIM:613720 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 7; DEE7

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

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