Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.420 GeneticVariation phenotype BEFREE Pathogenic variants of SLC2A1 leading to autosomal-dominant GLUT1 deficiency account for up to 1% of cases, increasing to 10% of those with absence seizures starting before age 4 years. 29741207 2018
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.420 Biomarker phenotype BEFREE We propose that these children serve to expand the phenotype of GLUT-1 DS and suggest that this condition should be considered as a cause of refractory absence seizures in childhood. 21366555 2011
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.420 Biomarker phenotype CTD_human Autosomal dominant glut-1 deficiency syndrome and familial epilepsy. 11603379 2001
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.420 Biomarker phenotype CTD_human Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. 10980529 2000
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.420 Biomarker phenotype CTD_human GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. 9462754 1998
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.420 CausalMutation phenotype CLINVAR
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.420 Biomarker phenotype HPO
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		0.400 Biomarker phenotype CTD_human Historic, clinical, and prognostic features of epileptic encephalopathies caused by CDKL5 mutations. 22264704 2012
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.400 Biomarker phenotype CTD_human Novel variants identified in methyl-CpG-binding domain genes in autistic individuals. 19921286 2010
Entrez Id: 348980
Gene Symbol: HCN1
HCN1 		0.400 Biomarker phenotype CTD_human Increased seizure severity and seizure-related death in mice lacking HCN1 channels. 20384728 2010
Entrez Id: 11284
Gene Symbol: PNKP
PNKP 		0.400 Biomarker phenotype CTD_human Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. 20118933 2010
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5 		0.400 Biomarker phenotype CTD_human A thallium transport FLIPR-based assay for the identification of KCC2-positive modulators. 20086212 2010
Entrez Id: 93183
Gene Symbol: PIGM
PIGM 		0.400 Biomarker phenotype CTD_human Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. 16767100 2006
Entrez Id: 6529
Gene Symbol: SLC6A1
SLC6A1 		0.400 Biomarker phenotype CTD_human Increased expression of gamma-aminobutyric acid transporter-1 in the forebrain of infant rats with corticotropin-releasing hormone-induced seizures but not in those with hyperthermia-induced seizures. 11074187 2000
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.400 Biomarker phenotype HPO
Entrez Id: 11284
Gene Symbol: PNKP
PNKP 		0.400 Biomarker phenotype HPO
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5 		0.400 Biomarker phenotype HPO
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		0.400 Biomarker phenotype HPO
Entrez Id: 348980
Gene Symbol: HCN1
HCN1 		0.400 Biomarker phenotype HPO
Entrez Id: 6529
Gene Symbol: SLC6A1
SLC6A1 		0.400 Biomarker phenotype HPO
Entrez Id: 93183
Gene Symbol: PIGM
PIGM 		0.400 Biomarker phenotype HPO
Entrez Id: 5816
Gene Symbol: PVALB
PVALB 		0.320 Biomarker phenotype BEFREE Altogether, these results suggest that absence seizures are associated with an increase of parvalbumin-inhibitory neurons, which may promote the functional relationship between epileptic oscillations and high-frequency activities. 30548850 2019
Entrez Id: 5816
Gene Symbol: PVALB
PVALB 		0.320 AlteredExpression phenotype BEFREE The lower expression of parvalbumin in the primary somatosensory cortex of WAG/Rij rats may facilitate the occurrence of absence seizures. 31153971 2019
Entrez Id: 5816
Gene Symbol: PVALB
PVALB 		0.320 Biomarker phenotype CTD_human Hyperthermic seizure induces persistent alteration in excitability of the dentate gyrus in immature rats. 18495095 2008
Entrez Id: 4852
Gene Symbol: NPY
NPY 		0.310 Biomarker phenotype BEFREE This study investigated whether NPY gene delivery to the thalamus or somatosensory cortex, using recombinant adeno-associated viral vector (rAAV), could produce sustained seizure suppression in the GAERS model of GGE with absence seizures. 29414380 2018