×
Entrez Id: 1137
Gene Symbol: CHRNA4
CHRNA4
Seizures, Focal
0.420
Biomarker
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
Seizures, Focal
0.420
Biomarker
CTD_human
Genetic and pharmacological strategies identify a behavioral function of neuronal nicotinic receptors.
10942032 2000
×
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
Seizures, Focal
0.400
Biomarker
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
Seizures, Focal
0.400
Biomarker
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
Seizures, Focal
0.400
Biomarker
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: 3785
Gene Symbol: KCNQ2
KCNQ2
Seizures, Focal
0.310
Biomarker
CTD_human
KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.
27602407 2016
×
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
Seizures, Focal
0.310
Biomarker
CTD_human
Historic, clinical, and prognostic features of epileptic encephalopathies caused by CDKL5 mutations.
22264704 2012
×
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
Seizures, Focal
0.310
Biomarker
CTD_human
A thallium transport FLIPR-based assay for the identification of KCC2-positive modulators.
20086212 2010
×
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
Seizures, Focal
0.310
Biomarker
CTD_human
Autosomal dominant glut-1 deficiency syndrome and familial epilepsy.
11603379 2001
×
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
Seizures, Focal
0.310
Biomarker
CTD_human
Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome.
10980529 2000
×
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
Seizures, Focal
0.310
Biomarker
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
Seizures, Focal
0.300
Biomarker
GENOMICS_ENGLAND
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
31300657 2019
×
Entrez Id: 116
Gene Symbol: ADCYAP1
ADCYAP1
Seizures, Focal
0.300
Biomarker
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
Seizures, Focal
0.300
Biomarker
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
Seizures, Focal
0.300
Biomarker
CTD_human
Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia.
28215400 2017
×
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
Seizures, Focal
0.300
Biomarker
CTD_human
Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia.
28215400 2017
×
Entrez Id: 43
Gene Symbol: ACHE
ACHE
Seizures, Focal
0.300
Therapeutic
CTD_human
HI-6 assisted catalytic scavenging of VX by acetylcholinesterase choline binding site mutants.
27083141 2016
×
Entrez Id: 6904
Gene Symbol: TBCD
TBCD
Seizures, Focal
0.300
Biomarker
CTD_human
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.
27666370 2016
×
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
Seizures, Focal
0.300
Biomarker
CTD_human
A small molecule inhibitor of mutant IDH2 rescues cardiomyopathy in a D-2-hydroxyglutaric aciduria type II mouse model.
27469509 2016
×
Entrez Id: 249
Gene Symbol: ALPL
ALPL
Seizures, Focal
0.300
Therapeutic
CTD_human
Neurodevelopmental alterations and seizures developed by mouse model of infantile hypophosphatasia are associated with purinergic signalling deregulation.
27466191 2016
×
Entrez Id: 5580
Gene Symbol: PRKCD
PRKCD
Seizures, Focal
0.300
Biomarker
CTD_human
Protein kinase Cδ mediates trimethyltin-induced neurotoxicity in mice in vivo via inhibition of glutathione defense mechanism.
25895139 2016
×
Entrez Id: 43
Gene Symbol: ACHE
ACHE
Seizures, Focal
0.300
Biomarker
CTD_human
HI-6 assisted catalytic scavenging of VX by acetylcholinesterase choline binding site mutants.
27083141 2016
×
Entrez Id: 249
Gene Symbol: ALPL
ALPL
Seizures, Focal
0.300
Biomarker
CTD_human
Neurodevelopmental alterations and seizures developed by mouse model of infantile hypophosphatasia are associated with purinergic signalling deregulation.
27466191 2016
×
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
Seizures, Focal
0.300
Biomarker
CTD_human
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
25751627 2015
×
Entrez Id: 2166
Gene Symbol: FAAH
FAAH
Seizures, Focal
0.300
Therapeutic
CTD_human
Enhancement of endocannabinoid signaling protects against cocaine-induced neurotoxicity.
25933444 2015