familial focal epilepsy with variable foci 1

Summary

DOID:0081421 - familial focal epilepsy with variable foci 1

Disease Ontology Definition:A familial focal epilepsy with variable foci that is characterized by focal seizures arising from different cortical regions in different family members and that has_material_basis_in heterozygous mutation in the DEPDC5 gene on chromosome 22q12.

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: depdc5

MIM:

MIM:604364 - EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1; FFEVF1

MIM:604364 - EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1; FFEVF1

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): familial focal epilepsy with variable foci (is_a)