Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1137
Gene Symbol: CHRNA4
CHRNA4 		0.420 Biomarker phenotype CTD_human Novel seizure phenotype and sleep disruptions in knock-in mice with hypersensitive alpha 4* nicotinic receptors. 16339034 2005
Entrez Id: 1137
Gene Symbol: CHRNA4
CHRNA4 		0.420 Biomarker phenotype BEFREE The reason why CHRNA4 causes focal-onset seizures is unknown. 16049035 2005
Entrez Id: 1137
Gene Symbol: CHRNA4
CHRNA4 		0.420 Biomarker phenotype BEFREE The reason why CHRNA4 causes focal-onset seizures is unknown. 16278970 2005
Entrez Id: 1137
Gene Symbol: CHRNA4
CHRNA4 		0.420 Biomarker phenotype CTD_human Genetic and pharmacological strategies identify a behavioral function of neuronal nicotinic receptors. 10942032 2000
Entrez Id: 1137
Gene Symbol: CHRNA4
CHRNA4 		0.420 Biomarker phenotype HPO
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		0.400 Biomarker phenotype GENOMICS_ENGLAND Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762 2013
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.400 Biomarker phenotype CTD_human POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders. 20138553 2010
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.400 Biomarker phenotype CTD_human Mitochondrial DNA damage and the involvement of antioxidant defense and repair system in hippocampi of rats with chronic seizures. 20446108 2010
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		0.400 Biomarker phenotype HPO
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.400 Biomarker phenotype HPO
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.310 GeneticVariation phenotype BEFREE KCNQ2 mutation in an infant with encephalopathy of infancy with migrating focal seizures. 30530441 2018
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5 		0.310 GeneticVariation phenotype BEFREE Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay. 27436767 2016
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.310 Biomarker phenotype CTD_human KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients. 27602407 2016
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.310 GeneticVariation phenotype BEFREE Our study underscores that focal epilepsy can be caused by SLC2A1 mutations or that focal seizures may present the main type of seizures. 25022942 2014
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		0.310 Biomarker phenotype CTD_human Historic, clinical, and prognostic features of epileptic encephalopathies caused by CDKL5 mutations. 22264704 2012
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5 		0.310 Biomarker phenotype CTD_human A thallium transport FLIPR-based assay for the identification of KCC2-positive modulators. 20086212 2010
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		0.310 GeneticVariation phenotype BEFREE Our observation and review of the literature suggest that a broader polymorphic electroclinical pattern with both generalized and focal seizures may occur in patients with CDKL5 mutations. 17049193 2007
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.310 Biomarker phenotype CTD_human Autosomal dominant glut-1 deficiency syndrome and familial epilepsy. 11603379 2001
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.310 Biomarker phenotype CTD_human Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. 10980529 2000
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.310 Biomarker phenotype CTD_human GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. 9462754 1998
Entrez Id: 2891
Gene Symbol: GRIA2
GRIA2 		0.300 Biomarker phenotype GENOMICS_ENGLAND AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. 31300657 2019
Entrez Id: 116
Gene Symbol: ADCYAP1
ADCYAP1 		0.300 Biomarker phenotype CTD_human IL-6 knockout mice are protected from cocaine-induced kindling behaviors; possible involvement of JAK2/STAT3 and PACAP signalings. 29673861 2018
Entrez Id: 23209
Gene Symbol: MLC1
MLC1 		0.300 Biomarker phenotype GENOMICS_ENGLAND Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts. 29466841 2018
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.300 Biomarker phenotype CTD_human Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia. 28215400 2017
Entrez Id: 7248
Gene Symbol: TSC1
TSC1 		0.300 Biomarker phenotype CTD_human Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia. 28215400 2017