Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1838049
Disease: Epilepsy, Nocturnal Frontal Lobe, Type 1
Epilepsy, Nocturnal Frontal Lobe, Type 1 		0.700 Biomarker disease GENOMICS_ENGLAND A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation. 14623738 2003
CUI: C1838049
Disease: Epilepsy, Nocturnal Frontal Lobe, Type 1
Epilepsy, Nocturnal Frontal Lobe, Type 1 		0.700 Biomarker disease GENOMICS_ENGLAND A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation. 14623738 2003
CUI: C1838049
Disease: Epilepsy, Nocturnal Frontal Lobe, Type 1
Epilepsy, Nocturnal Frontal Lobe, Type 1 		0.700 GeneticVariation disease UNIPROT A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation. 14623738 2003
CUI: C1838049
Disease: Epilepsy, Nocturnal Frontal Lobe, Type 1
Epilepsy, Nocturnal Frontal Lobe, Type 1 		0.700 GeneticVariation disease UNIPROT A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy. 10563623 1999
CUI: C1838049
Disease: Epilepsy, Nocturnal Frontal Lobe, Type 1
Epilepsy, Nocturnal Frontal Lobe, Type 1 		0.700 Biomarker disease GENOMICS_ENGLAND Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2. 7647781 1995
CUI: C1838049
Disease: Epilepsy, Nocturnal Frontal Lobe, Type 1
Epilepsy, Nocturnal Frontal Lobe, Type 1 		0.700 GeneticVariation disease UNIPROT A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. 7550350 1995
CUI: C1838049
Disease: Epilepsy, Nocturnal Frontal Lobe, Type 1
Epilepsy, Nocturnal Frontal Lobe, Type 1 		0.700 CausalMutation disease CLINVAR
CUI: C1838049
Disease: Epilepsy, Nocturnal Frontal Lobe, Type 1
Epilepsy, Nocturnal Frontal Lobe, Type 1 		0.700 Biomarker disease CTD_human
CUI: C1838049
Disease: Epilepsy, Nocturnal Frontal Lobe, Type 1
Epilepsy, Nocturnal Frontal Lobe, Type 1 		0.700 GeneticVariation disease CLINVAR
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