Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1141
Gene Symbol: CHRNB2
CHRNB2 		0.500 GermlineCausalMutation disease ORPHANET The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. 11062464 2000
Entrez Id: 1137
Gene Symbol: CHRNA4
CHRNA4 		0.500 GermlineCausalMutation disease ORPHANET A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. 7550350 1995
Entrez Id: 1135
Gene Symbol: CHRNA2
CHRNA2 		0.480 GermlineCausalMutation disease ORPHANET Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. 16826524 2006
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1 		0.350 GermlineCausalMutation disease ORPHANET KCNT1 mutations were identified in two additional families and a sporadic case with severe ADNFLE and psychiatric features. 23086396 2012
Entrez Id: 1392
Gene Symbol: CRH
CRH 		0.330 GermlineCausalMutation disease ORPHANET Frontal lobe epilepsy and mutations of the corticotropin-releasing hormone gene. 16222669 2005
Entrez Id: 9681
Gene Symbol: DEPDC5
DEPDC5 		0.310 GermlineCausalMutation disease ORPHANET Mutations of DEPDC5 cause autosomal dominant focal epilepsies. 23542701 2013
Entrez Id: 9681
Gene Symbol: DEPDC5
DEPDC5 		0.310 GermlineCausalMutation disease ORPHANET Mutations in DEPDC5 cause familial focal epilepsy with variable foci. 23542697 2013
Entrez Id: 57010
Gene Symbol: CABP4
CABP4 		0.300 GermlineCausalMutation disease ORPHANET Exome sequencing identified a novel missense mutation c.464G>A (p.G155D) in Ca2+-binding protein 4 (CABP4) in a Chinese pedigree with autosomal dominant nocturnal frontal lobe epilepsy. 29108277 2017