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Epilepsy, idiopathic generalized, susceptibility to, 10; EIG10

Disease ID:310
Name:Epilepsy, idiopathic generalized, susceptibility to, 10; EIG10
Associated with:1 target
Synonyms
Generalized epilepsy with febrile seizures-plus | Idiopathic generalized epilepsy
Database Links
Disease Ontology: DOID:1827, DOID:0060170
OMIM: 613060
Orphanet: ORPHA36387

Targets

GABAA receptor δ subunit
Role:  A GABRD Glu177Ala variant is heterozygously associated with generalized epilepsy with febrile seizures plus (GEFS+)
References:  1

Ligands

No ligand related data available for Epilepsy, idiopathic generalized, susceptibility to, 10; EIG10

References

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1. Dibbens LM, Feng HJ, Richards MC, Harkin LA, Hodgson BL, Scott D, Jenkins M, Petrou S, Sutherland GR, Scheffer IE, Berkovic SF, Macdonald RL, Mulley JC. (2004) GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies. Hum. Mol. Genet., 13 (13): 1315-9. [PMID:15115768]