Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.110 GeneticVariation disease BEFREE We conclude that, independent of precise syndromic delineation, myoclonic-astatic seizures are not predictive of SCN1A mutations in sporadic myoclonic epilepsies of infancy and early childhood. 15944908 2005
Entrez Id: 10588
Gene Symbol: MTHFS
MTHFS 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 100528021
Gene Symbol: ST20-MTHFS
ST20-MTHFS 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 2348
Gene Symbol: FOLR1
FOLR1 		0.010 GeneticVariation disease BEFREE Sensory stimulus-sensitive drop attacks and basal ganglia calcification: new findings in a patient with FOLR1 deficiency. 24556562 2014
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.010 GeneticVariation disease BEFREE Each individual carrying a DNM in SYNGAP1 had moderate-to-severe ID and 7/10 had epilepsy; typically myoclonic seizures, absences or drop attacks. 26079862 2015
Entrez Id: 4566
Gene Symbol: TRNK
TRNK 		0.010 GeneticVariation disease BEFREE "Drop attacks" as first clinical symptoms in a child carrying MTTK m.8344A>G mutation. 24374964 2013
Entrez Id: 7084
Gene Symbol: TK2
TK2 		0.010 GeneticVariation disease BEFREE "Drop attacks" as first clinical symptoms in a child carrying MTTK m.8344A>G mutation. 24374964 2013
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.400 Biomarker disease CTD_human Novel variants identified in methyl-CpG-binding domain genes in autistic individuals. 19921286 2010
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		0.400 Biomarker disease CTD_human Historic, clinical, and prognostic features of epileptic encephalopathies caused by CDKL5 mutations. 22264704 2012
Entrez Id: 11284
Gene Symbol: PNKP
PNKP 		0.400 Biomarker disease CTD_human Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. 20118933 2010
Entrez Id: 6529
Gene Symbol: SLC6A1
SLC6A1 		0.400 Biomarker disease HPO
Entrez Id: 11284
Gene Symbol: PNKP
PNKP 		0.400 Biomarker disease HPO
Entrez Id: 348980
Gene Symbol: HCN1
HCN1 		0.400 Biomarker disease CTD_human Increased seizure severity and seizure-related death in mice lacking HCN1 channels. 20384728 2010
Entrez Id: 6529
Gene Symbol: SLC6A1
SLC6A1 		0.400 Biomarker disease 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: 93183
Gene Symbol: PIGM
PIGM 		0.400 Biomarker disease CTD_human Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. 16767100 2006
Entrez Id: 348980
Gene Symbol: HCN1
HCN1 		0.400 Biomarker disease HPO
Entrez Id: 2593
Gene Symbol: GAMT
GAMT 		0.400 Biomarker disease HPO
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		0.400 Biomarker disease HPO
Entrez Id: 2593
Gene Symbol: GAMT
GAMT 		0.400 Biomarker disease CTD_human Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation. 15651030 2005
Entrez Id: 93183
Gene Symbol: PIGM
PIGM 		0.400 Biomarker disease HPO
Entrez Id: 5020
Gene Symbol: OXT
OXT 		0.300 Biomarker disease CTD_human "Oxytocin, ""salting out,"" and water intoxication." 5067144 1972
Entrez Id: 5020
Gene Symbol: OXT
OXT 		0.300 Biomarker disease CTD_human A generalized epileptiform convulsion after intra-amniotic prostaglandin with intravenous oxytocin infusion: a case report. 644406 1978
Entrez Id: 3630
Gene Symbol: INS
INS 		0.300 Biomarker disease CTD_human Trimethoprim-sulfamethoxazole induced prolonged hypoglycemia in an infant with MHC class II deficiency: diazoxide as a treatment option. 14714756 2003
Entrez Id: 7248
Gene Symbol: TSC1
TSC1 		0.300 Biomarker disease CTD_human Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia. 28215400 2017
Entrez Id: 6547
Gene Symbol: SLC8A3
SLC8A3 		0.300 Biomarker disease CTD_human Blockade of the sodium calcium exchanger exhibits anticonvulsant activity in a pilocarpine model of acute seizures in rats. 20888801 2010