obsolete idiopathic generalized epilepsy 10

Summary
Definition
An idiopathic generalized epilepsy that has_material_basis_in variation in the GABRD on chromosome 1p36.33.
Disease Ontology
DOID:0111292
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2563 GABRD gamma-aminobutyric acid type A receptor subunit delta
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
O14764 Gamma-aminobutyric acid receptor subunit delta
The Human Phenotype Ontology
Displaying entries 21 - 28 of 28 in total
HPO ID HPO Term
HP:0001337 Tremor
HP:0002311 Incoordination
HP:0011151 Atypical absence status epilepticus
HP:0010819 Atonic seizure
HP:0100694 Tibial torsion
HP:0008770 Obsessive-compulsive trait
HP:0100543 Cognitive impairment
HP:0010850 EEG with spike-wave complexes
Displaying 1 entry
Gene ID Gene Symbol Description
84059 ADGRV1 adhesion G protein-coupled receptor V1

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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: April 6, 2026