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Standards Ontologies Notations
familial focal epilepsy with variable foci 3

Summary
Definition
A familial focal epilepsy with variable foci that has_material_basis_in heterozygous mutation in the NPRL3 gene on chromosome 16p13.
Super Class
familial focal epilepsy with variable foci
Disease Ontology
DOID:0081423
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
8131 NPRL3 NPR3 like, GATOR1 complex subunit
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