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Standards Ontologies Notations
idiopathic generalized epilepsy 8

Summary
Synonym
  • EIG8
Definition
An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CASR on chromosome 3q13.3-q21.1.
Super Class
idiopathic generalized epilepsy
Disease Ontology
DOID:0111322
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
846 CASR calcium sensing receptor
Displaying 1 entry
Gene ID Gene Symbol Description Source
12374 Casr calcium-sensing receptor
Displaying 1 entry
Gene ID Gene Symbol Description Source
24247 Casr calcium-sensing receptor
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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