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Standards Ontologies Notations
familial focal epilepsy with variable foci 1

Summary
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.
Super Class
familial focal epilepsy with variable foci
Disease Ontology
DOID:0081421
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
9681 DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit
Displaying 1 entry
Gene ID Gene Symbol Description Source
277854 Depdc5 DEP domain containing 5
Displaying 1 entry
Gene ID Gene Symbol Description Source
853603 IML1 GTPase-activating protein IML1
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024