Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		0.500 AlteredExpression disease BEFREE Based on genetic studies in patients with epileptic disorders worldwide and animal models of seizure, it has been demonstrated that nAChR activity is altered in some specific types of epilepsy, including autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) and juvenile myoclonic epilepsy (JME). 25565544 2015
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		0.500 GeneticVariation disease BEFREE In 1999, Hirose et al. reported a Japanese family with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) associated with a neuronal nicotinic acetylcholine receptor α4 subunit mutation (S252L). 22883468 2013
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		0.500 Biomarker disease BEFREE We also tested the hypothesis that the 2-bp deletion polymorphism in the partially duplicated α7 nAChR gene may be related to ADNFLE in these patients. 23553139 2013
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		0.500 CausalMutation disease CLINVAR A de novo mutation in an Italian sporadic patient affected by nocturnal frontal lobe epilepsy. 22118295 2012
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		0.500 GeneticVariation disease BEFREE Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a rare familial seizure disorder caused by mutations in at least two different subunit genes of the neuronal nicotinic acetylcholine receptor (nAChR), CHRNA4 and CHRNB2. 22036597 2012
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		0.500 GeneticVariation disease BEFREE Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation. 21753767 2011
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		0.500 GeneticVariation disease BEFREE Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is partly caused by mutations in the nicotinic acetylcholine receptor (nAChR) genes CHRNA4, CHRNB2, and CHRNA2. 21497487 2011
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		0.500 GeneticVariation disease BEFREE In order to assess the genetic defects in NFLE, we performed a mutation screening in 33 unrelated patients with sporadic NFLE by amplifying and sequencing bidirectionally TM 1-3 of CHRNA4, CHRNB2 and CHRNA2 which contain the mutations reported in ADNFLE. 19058950 2009
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		0.500 Biomarker disease BEFREE The clinical courses of patients with deletions of both KCNQ2 and CHRNA4 were those of typical BFNS, and none presented with the phenotype of autosomal dominant nocturnal frontal lobe epilepsy, some of which are caused by mutations of CHRNA4. 19822871 2009
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		0.500 CausalMutation disease CLINVAR Nicotine normalizes intracellular subunit stoichiometry of nicotinic receptors carrying mutations linked to autosomal dominant nocturnal frontal lobe epilepsy. 19237585 2009
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		0.500 GeneticVariation disease BEFREE Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) can be caused by mutations in the neuronal nicotinic acetylcholine receptor (nAChR) subunit genes CHRNA4 and CHRNB2. 19383498 2009
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		0.500 GeneticVariation disease BEFREE Certain mutations in specific parts of the neuronal nicotinic acetylcholine receptor (nAChR) subunit genes CHRNA4, CHRNB2, and probably CHRNA2, can cause autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). 18456869 2008
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		0.500 Biomarker disease BEFREE The molecular basis of severe ADNFLE is unknown but may involve non-nAChR-related mechanisms. 18479385 2008
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		0.500 GeneticVariation disease BEFREE Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE; MIM 600513) has been associated with mutations in the genes coding for the alfa-4 (CHRNA4), beta-2 (CHRNB2), and alpha-2 (CHRNA2) subunits of the neuronal nicotinic acetylcholine receptor (nAChR) and for the corticotropin-releasing hormone (CRH). 17900292 2008
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		0.500 GeneticVariation disease BEFREE Prolonged continuous video-EEG recording and analysis of 30 seizures in an 18-year-old woman suffering from ADNFLE with a CHRNA4 gene mutation. 18762450 2008
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		0.500 Biomarker disease BEFREE It is therefore reasonable to hypothesize that at least another gene not belonging to the nAChR gene family, in addition to CRH, is involved in the pathogenesis of ADNFLE. 17324557 2007
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		0.500 GeneticVariation disease BEFREE Mutations in neuronal nAChRs are found in a rare form of familial nocturnal frontal lobe epilepsy (ADNFLE), while mutations in the neuromuscular subtype of the nAChR are responsible for either congenital myasthenia syndromes (adult subtype of neuromuscular nAChR) or a form of arthrogryposis multiplex congenita type Escobar (fetal subtype of neuromuscular nAChR). 17434185 2007
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		0.500 GeneticVariation disease BEFREE Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is known to be caused by mutations in the transmembrane regions of the neuronal nicotinic acetylcholine receptor (nAChR) genes CHRNA4 and CHRNB2. 17602836 2007
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		0.500 GeneticVariation disease BEFREE To examine possible mechanisms underlying this inherited epilepsy, we engineered two ADNFLE mutations (Chrna4(S252F) and Chrna4(+L264)) in mice. 17146052 2006
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		0.500 Biomarker disease BEFREE We have assessed nAChR distribution in eight non-smoking ADNFLE patients (from five families) bearing an identified mutation in nAChRs and in seven age-matched non-smoking healthy volunteers using PET and [(18)F]-F-A-85380. 16815873 2006
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		0.500 GeneticVariation disease BEFREE Mutations responsible for autosomal dominant nocturnal frontal lobe epilepsy have been identified in two members of the neuronal nicotinic acetylcholine receptor gene family: CHRNA4(ENFL1 locus) and CHRNB2 (ENFL3 locus) coding for alpha4 and beta2 subunit, respectively. 15245761 2004
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		0.500 GeneticVariation disease BEFREE A group of 47 patients from 21 unrelated families with ADNFLE were screened for mutations in CHRNA4. 12887446 2003
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		0.500 Biomarker disease BEFREE The alpha4-subunit gene of the neuronal nicotinic acetylcholine receptor (CHRNA4) has been identified as the first gene underlying an idiopathic partial epilepsy syndrome in human autosomal-dominant nocturnal frontal lobe epilepsy. 12887442 2003
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		0.500 CausalMutation disease CLINVAR Evidence for S284L mutation of the CHRNA4 in a white family with autosomal dominant nocturnal frontal lobe epilepsy. 12887446 2003
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 		0.500 GeneticVariation disease BEFREE ADNFLE has been associated with mutations in two genes coding for the nicotinic acetylcholine receptor (CHRNA4 and CHRNB2). 12782965 2003