Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1137
Gene Symbol: CHRNA4
CHRNA4
0.440 Biomarker phenotype BEFREE In this study, α7-nAchRs were activated by using PNU-282,987 (PNU), a selective α7-nAchR agonist, in order to evaluate their effect in seizure threshold as well as GABAergic parameters in a PFS rat model. 31051225 2019
Entrez Id: 1137
Gene Symbol: CHRNA4
CHRNA4
0.440 AlteredExpression phenotype BEFREE DEX reduced seizure severity and increased the amplitudes and sustainable time of LTP, and also inhibited the hippocampal expression of α7-nAChR and IL-1β in CSE rats. 29080744 2018
Entrez Id: 1137
Gene Symbol: CHRNA4
CHRNA4
0.440 Biomarker phenotype BEFREE In this review, we re-examine the evidence for the involvement of nAChRs in the pathophysiology of some epileptic disorders, especially ADNFLE and JME, and provide an overview of nAChR antagonists that have been evaluated in animal models of seizure. 25565544 2015
Entrez Id: 1137
Gene Symbol: CHRNA4
CHRNA4
0.440 CausalMutation phenotype CLINVAR Autism in siblings with autosomal dominant nocturnal frontal lobe epilepsy. 22883468 2013
Entrez Id: 1137
Gene Symbol: CHRNA4
CHRNA4
0.440 CausalMutation phenotype CLINVAR Mutations in familial nocturnal frontal lobe epilepsy might be associated with distinct neurological phenotypes. 22036597 2012
Entrez Id: 1137
Gene Symbol: CHRNA4
CHRNA4
0.440 CausalMutation phenotype CLINVAR Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation. 21753767 2011
Entrez Id: 1137
Gene Symbol: CHRNA4
CHRNA4
0.440 CausalMutation phenotype CLINVAR Rats harboring S284L Chrna4 mutation show attenuation of synaptic and extrasynaptic GABAergic transmission and exhibit the nocturnal frontal lobe epilepsy phenotype. 19020039 2008
Entrez Id: 1137
Gene Symbol: CHRNA4
CHRNA4
0.440 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
0.440 CausalMutation phenotype CLINVAR Evidence for S284L mutation of the CHRNA4 in a white family with autosomal dominant nocturnal frontal lobe epilepsy. 12887446 2003
Entrez Id: 1137
Gene Symbol: CHRNA4
CHRNA4
0.440 Biomarker phenotype BEFREE The CHRNA4 gene may have a role in the development of febrile convulsions (FCs), the majority of childhood seizures. 12887442 2003
Entrez Id: 1137
Gene Symbol: CHRNA4
CHRNA4
0.440 CausalMutation phenotype CLINVAR A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation. 14623738 2003
Entrez Id: 1137
Gene Symbol: CHRNA4
CHRNA4
0.440 CausalMutation phenotype CLINVAR Mutation (Ser284Leu) of neuronal nicotinic acetylcholine receptor alpha 4 subunit associated with frontal lobe epilepsy causes faster desensitization of the rat receptor expressed in oocytes. 11904236 2002
Entrez Id: 1137
Gene Symbol: CHRNA4
CHRNA4
0.440 CausalMutation phenotype CLINVAR Electroclinical picture of autosomal dominant nocturnal frontal lobe epilepsy in a Japanese family. 10643924 2000
Entrez Id: 1137
Gene Symbol: CHRNA4
CHRNA4
0.440 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
0.440 CausalMutation phenotype CLINVAR A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy. 10563623 1999