MCID: ATS011
MIFTS: 34

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy malady

Summaries for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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21Genetics Home Reference, 64Wikipedia, 19GeneReviews, 33MalaCards
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Genetics Home Reference:21 Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon form of epilepsy that runs in families. This disorder causes seizures that usually occur at night (nocturnally) while an affected person is sleeping. Some people with ADNFLE also have seizures during the day.

MalaCards: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy, also known as adnfle, is related to frontal lobe epilepsy and epilepsy, nocturnal frontal lobe, 1. An important gene associated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy is CRH (corticotropin releasing hormone), and among its related pathways are Nicotine addiction and Circadian entrainment. The compounds (-)-nicotine ditartrate and varenicline tartrate have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotypes are behavior/neurological and nervous system.

Wikipedia:64 Autosomal dominant nocturna frontal lobe epilepsy (ADNFLE) is an epileptic disorder that causes frequent... more...

GeneReviews summary for adnfle

Aliases & Classifications for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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19GeneReviews, 20GeneTests, 21Genetics Home Reference
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Aliases & Descriptions:

autosomal dominant nocturnal frontal lobe epilepsy 19 20 21
adnfle 19 21


Related Diseases for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy:



Diseases related to autosomal dominant nocturnal frontal lobe epilepsy

Clinical Features for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Drugs & Therapeutics for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Genetic Tests for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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Genetic tests related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy:

id Genetic test Affiliating Genes
1 Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant20 CRH

Anatomical Context for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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33MalaCards
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MalaCards organs/tissues related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy:

33
Brain

Animal Models for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy or affiliated genes

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37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.5CHRNA5, CHRNB3, CHRNA4, CHRNA3, CHRNB2, CRH
2MP:00036316.4CHRNA5, CRH, CHRNB2, CHRNA2, CHRNA3, CHRNA6

Publications for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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51PubMed
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Articles related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy:

(show top 50)    (show all 65)
idTitleAuthorsYear
1
Autism in siblings with autosomal dominant nocturnal frontal lobe epilepsy. (22883468)
2013
2
A novel prophylactic effect of furosemide treatment on autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). (24045013)
2013
3
Hippocampal sclerosis worsens autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) phenotype related to CHRNB2 mutation. (22897520)
2013
4
A transcript coding for a partially duplicated form of I+7 nicotinic acetylcholine receptor is absent from the CD4+ T-lymphocytes of patients with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). (23553139)
2013
5
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. (23086396)
2012
6
Altered activity-rest patterns in mice with a human autosomal-dominant nocturnal frontal lobe epilepsy mutation in the I^2 nicotinic receptor. (20603624)
2011
7
Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation. (21753767)
2011
8
Neuropsychological function in patients with a single gene mutation associated with autosomal dominant nocturnal frontal lobe epilepsy. (20189461)
2010
9
Nicotine normalizes intracellular subunit stoichiometry of nicotinic receptors carrying mutations linked to autosomal dominant nocturnal frontal lobe epilepsy. (19237585)
2009
10
Reduced striatal D1 receptor binding in autosomal dominant nocturnal frontal lobe epilepsy. (18685138)
2008
11
Autosomal dominant nocturnal frontal lobe epilepsy and mild memory impairment associated with CHRNB2 mutation I312M in the neuronal nicotinic acetylcholine receptor. (18534914)
2008
12
The multifaceted role of inhibition in epilepsy: seizure-genesis through excessive GABAergic inhibition in autosomal dominant nocturnal frontal lobe epilepsy. (18317273)
2008
13
Autosomal dominant nocturnal frontal lobe epilepsy with a mutation in the CHRNB2 gene. (17900292)
2008
14
K-complex-induced seizures in autosomal dominant nocturnal frontal lobe epilepsy. (18762450)
2008
15
A major role of the nicotinic acetylcholine receptor gene CHRNA2 in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is unlikely. (17602836)
2007
16
Further evidence of genetic heterogeneity in families with autosomal dominant nocturnal frontal lobe epilepsy. (17324557)
2007
17
Nicotine-induced dystonic arousal complex in a mouse line harboring a human autosomal-dominant nocturnal frontal lobe epilepsy mutation. (17881519)
2007
18
Mutations linked to autosomal dominant nocturnal frontal lobe epilepsy affect allosteric Ca2+ activation of the alpha 4 beta 2 nicotinic acetylcholine receptor. (15901849)
2005
19
Evidence for a fourth locus for autosomal dominant nocturnal frontal lobe epilepsy. (15245761)
2004
20
Autosomal dominant nocturnal frontal lobe epilepsy--a critical overview. (15316796)
2004
21
Calcium and Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE). (15346160)
2003
22
Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy. (12681012)
2003
23
Genetic basis of autosomal dominant nocturnal frontal lobe epilepsy. (12773798)
2003
24
A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation. (14623738)
2003
25
Evidence for S284L mutation of the CHRNA4 in a white family with autosomal dominant nocturnal frontal lobe epilepsy. (12887446)
2003
26
Mutational analysis of nicotinic acetylcholine receptor beta2 subunit gene (CHRNB2) in a representative cohort of Italian probands affected by autosomal dominant nocturnal frontal lobe epilepsy. (11952766)
2002
27
Molecular modelling of the interactions of carbamazepine and a nicotinic receptor involved in the autosomal dominant nocturnal frontal lobe epilepsy. (12110613)
2002
28
Autosomal dominant nocturnal frontal lobe epilepsy. (11968471)
2002
29
CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. (11104662)
2001
30
Autosomal dominant nocturnal frontal lobe epilepsy. (10961640)
2000
31
A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1. (11094099)
2000
32
Electroclinical picture of autosomal dominant nocturnal frontal lobe epilepsy in a Japanese family. (10643924)
2000
33
The macrostructure and microstructure of sleep in patients with autosomal dominant nocturnal frontal lobe epilepsy. (10709813)
2000
34
Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene. (10448807)
1999
35
A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy. (10563623)
1999
36
Autosomal dominant nocturnal frontal lobe epilepsy: an electroclinical study of a Norwegian family with ten affected members. (9924907)
1999
37
A family with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation. (9840354)
1998
38
Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsy. (9831911)
1998
39
Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. (9758605)
1998
40
Autosomal dominant nocturnal frontal lobe epilepsy]. (9773047)
1998
41
Autosomal dominant nocturnal frontal lobe epilepsy. A video-polysomnographic and genetic appraisal of 40 patients and delineation of the epileptic syndrome. (9549500)
1998
42
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) (9186259)
1997
43
Mutation causing autosomal dominant nocturnal frontal lobe epilepsy alters Ca2+ permeability, conductance, and gating of human alpha4beta2 nicotinic acetylcholine receptors. (9364050)
1997
44
Genetic heterogeneity in autosomal dominant nocturnal frontal lobe epilepsy. (9241568)
1997
45
Autosomal dominant nocturnal frontal lobe epilepsy: demonstration of focal frontal onset and intrafamilial variation. (9339675)
1997
46
An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy. (9175743)
1997
47
Autosomal dominant nocturnal frontal lobe epilepsy: electroclinical picture. (8822695)
1996
48
Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2. (7647781)
1995
49
Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder. (7895015)
1995
50
A missense mutation in the neuronal nicotinic acetylcholine receptor alpha-4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. (7550350)
1995

Genetic Variations for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Expression for genes affiliated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Search GEO for disease gene expression data for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy.

Pathways for genes affiliated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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30KEGG, 50PharmGKB, 38NCBI BioSystems Database, 52QIAGEN, 54Reactome, 12EMD Millipore
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Pathways related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3CHRNB2, CHRNA6, CHRNA4
2
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8.5CHRNA4, CHRNA6, CHRNA3, CHRNB2
3
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7.8CHRNB2, CHRNA3, CHRNA6, CHRNA4, CHRNA5
4
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7.8CHRNA5, CHRNA4, CHRNA6, CHRNA3, CHRNA2
5
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6.9CHRNB2, CHRNA2, CHRNA3, CHRNA6, CHRNA4, CHRNB3
6
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6.9CHRNB2, CHRNA2, CHRNA3, CHRNA6, CHRNA4, CHRNB3
7
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6.5CHRNB2, CHRNA2, CHRNA3, CHRNA6, CHRNA4, CHRNB3
86.5CHRNA5, CHRNB2, CHRNB1, CHRNB3, CHRNA4, CHRNA6
9
Hide members
6.2CRH, CHRNB2, CHRNA2, CHRNA3, CHRNA6, CHRNA4

Compounds for genes affiliated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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60Tocris Bioscience, 29IUPHAR, 45Novoseek, 11DrugBank, 50PharmGKB, 24HMDB
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Compounds related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1(-)-nicotine ditartrate6010.1CHRNB2, CHRNA4
2varenicline tartrate6010.1CHRNA4, CHRNB2
3sazetidine a dihydrochloride6010.0CHRNA4, CHRNB2
4rjr 2403 oxalate6010.0CHRNA4, CHRNB2
5desformylflustrabromine hydrochloride6010.0CHRNB2, CHRNA4
6ly2087101 299.7CHRNA2, CHRNA4
7ns1738 299.4CHRNA3, CHRNA4
8a-867744 299.3CHRNA3, CHRNA4
9[125i]epibatidine299.3CHRNA2, CHRNA3, CHRNA4
10[3h]cytisine299.2CHRNA2, CHRNA3, CHRNA4
11[3h]epibatidine299.2CHRNA2, CHRNA3, CHRNA4
12α-conotoxin-gic299.2CHRNA5, CHRNA3
13α-conotoxin txia299.2CHRNA5, CHRNA3
14α-conotoxin pnia299.1CHRNA5, CHRNA3
15varenicline45 1110.1CHRNA4, CHRNA6, CHRNA3
16α-conotoxin mii298.8CHRNA3, CHRNA6, CHRNA5
17hexamethonium45 299.7CHRNA2, CHRNA3, CHRNA6, CHRNA4
18drugs used in nicotine dependence508.7CHRNA5, CHRNA3
19acetylcholine45 50 29 11 2412.7CHRNA4, CHRNA3, CHRNB2, CRH
20mecamylamine29 45 1110.4CRH, CHRNA2, CHRNA3, CHRNA6, CHRNA4
21nicotine45 50 29 1110.0CHRNA5, CRH, CHRNB2, CHRNA2, CHRNA3, CHRNA6
22galantamine45 50 118.8CHRNB2, CHRNA2, CHRNA3, CHRNA6, CHRNA4, CHRNB3

GO Terms for genes affiliated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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16Gene Ontology
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Cellular components related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1plasma membraneGO:0058866.9CHRNA2, CHRNA3, CHRNA6, CHRNA4, CHRNB3, CHRNA5
2acetylcholine-gated channel complexGO:0058926.5CHRNA5, CHRNB2, CHRNA2, CHRNA3, CHRNA6, CHRNA4
3postsynaptic membraneGO:0452116.4CHRNB2, CHRNA2, CHRNA3, CHRNA6, CHRNA4, CHRNB3
4cell junctionGO:0300546.2CHRNB2, CHRNA2, CHRNA3, CHRNA6, CHRNA4, CHRNB3

Biological processes related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy according to GeneCards/GeneDecks:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1associative learningGO:00830610.0CHRNB2, CRH
2cognitionGO:05089010.0CHRNB2, CHRNA4
3response to nicotineGO:0350949.9CHRNA4, CHRNB2
4B cell activationGO:0421139.9CHRNA4, CHRNB2
5calcium ion transportGO:0068169.8CHRNA4, CHRNB2
6sensory perception of painGO:0192339.7CHRNA4, CHRNB2
7neurological system processGO:0508779.7CHRNB2, CHRNA4, CHRNB1
8synaptic transmission involved in micturitionGO:0600849.6CHRNA3, CHRNB2
9regulation of dopamine secretionGO:0140599.6CHRNA4, CHRNA6, CHRNB2
10membrane depolarizationGO:0518999.6CHRNB2, CHRNA6, CHRNA4
11response to ethanolGO:0454719.6CHRNB2, CRH
12regulation of dendrite morphogenesisGO:0488149.5CHRNA3, CHRNB2
13locomotory behaviorGO:0076269.2CHRNA4, CHRNA3, CHRNB2
14regulation of membrane potentialGO:0423919.1CHRNA3, CHRNA4, CHRNB1
15ion transportGO:0068118.9CHRNA4, CHRNA3, CHRNA2, CHRNB2
16transportGO:0068108.8CHRNA6, CHRNB3, CHRNA5
17synaptic transmission, cholinergicGO:0072718.3CHRNB2, CHRNA3, CHRNA4, CHRNB3, CHRNB1
18behavioral response to nicotineGO:0350958.2CHRNA5, CHRNB1, CHRNA4, CHRNA3, CHRNB2
19synaptic transmissionGO:0072687.0CRH, CHRNB2, CHRNA2, CHRNA3, CHRNA6, CHRNA4
20signal transductionGO:0071656.5CRH, CHRNB2, CHRNA2, CHRNA3, CHRNA6, CHRNA4

Molecular functions related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1channel activityGO:0152679.5CHRNB1, CHRNB3
2acetylcholine bindingGO:0421667.9CHRNB2, CHRNA3, CHRNA4, CHRNB3, CHRNB1
3ligand-gated ion channel activityGO:0152767.6CHRNB2, CHRNA3, CHRNA4, CHRNB1, CHRNA5
4acetylcholine receptor activityGO:0154647.0CHRNB2, CHRNA2, CHRNA3, CHRNA6, CHRNA4, CHRNB1
5acetylcholine-activated cation-selective channel activityGO:0048896.6CHRNA5, CHRNB2, CHRNB1, CHRNB3, CHRNA4, CHRNA6

Products for genes affiliated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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Sources for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet