Gene: GABRA1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1 		0.330 GeneticVariation disease BEFREE In addition, de novo GABRA1 mutations were recently reported in a patient with infantile spasms and four patients with Dravet syndrome. 26918889 2016
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1 		0.330 GermlineCausalMutation disease ORPHANET We show that GABRA1 and STXBP1 make a significant contribution to Dravet syndrome after SCN1A abnormalities have been excluded. 24623842 2014
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1 		0.330 Biomarker disease BEFREE We show that GABRA1 and STXBP1 make a significant contribution to Dravet syndrome after SCN1A abnormalities have been excluded. 24623842 2014
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1 		0.330 Biomarker disease BEFREE Mutations in inhibitory GABAA receptor subunit genes (GABRA1, GABRB3, GABRG2 and GABRD) have been associated with genetic epilepsy syndromes including childhood absence epilepsy (CAE), juvenile myoclonic epilepsy (JME), pure febrile seizures (FS), generalized epilepsy with febrile seizures plus (GEFS+), and Dravet syndrome (DS)/severe myoclonic epilepsy in infancy (SMEI). 20308251 2010