MCID: ATS011
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Autosomal Dominant Nocturnal Frontal Lobe Epilepsy malady

Summaries for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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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 schizophrenia. 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:63 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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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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Graphical network of 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

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Drugs & Therapeutics for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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5CenterWatch, 41NIH 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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MalaCards organs/tissues related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy:

32
Brain

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

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MGI Mouse Phenotypes related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy:

36
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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50PubMed
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Articles related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy:

(show top 50)    (show all 65)
idTitleAuthorsYear
1
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. (23086396)
2012
2
A case of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) coexisting with pervasive developmental disorder harboring SCN1A mutation in addition to CHRNB2 mutation. (23032131)
2012
3
Altered activity-rest patterns in mice with a human autosomal-dominant nocturnal frontal lobe epilepsy mutation in the I^2 nicotinic receptor. (20603624)
2011
4
Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation. (21753767)
2011
5
Neuropsychological function in patients with a single gene mutation associated with autosomal dominant nocturnal frontal lobe epilepsy. (20189461)
2010
6
Nicotine normalizes intracellular subunit stoichiometry of nicotinic receptors carrying mutations linked to autosomal dominant nocturnal frontal lobe epilepsy. (19237585)
2009
7
Reduced striatal D1 receptor binding in autosomal dominant nocturnal frontal lobe epilepsy. (18685138)
2008
8
The multifaceted role of inhibition in epilepsy: seizure-genesis through excessive GABAergic inhibition in autosomal dominant nocturnal frontal lobe epilepsy. (18317273)
2008
9
Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability. (18479385)
2008
10
Is too much inhibition to blame in autosomal dominant nocturnal frontal lobe epilepsy? (17694173)
2007
11
A major role of the nicotinic acetylcholine receptor gene CHRNA2 in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is unlikely. (17602836)
2007
12
Nicotine-induced dystonic arousal complex in a mouse line harboring a human autosomal-dominant nocturnal frontal lobe epilepsy mutation. (17881519)
2007
13
Tobacco habits modulate autosomal dominant nocturnal frontal lobe epilepsy. (16931165)
2006
14
Mutations linked to autosomal dominant nocturnal frontal lobe epilepsy affect allosteric Ca2+ activation of the alpha 4 beta 2 nicotinic acetylcholine receptor. (15901849)
2005
15
Recent advances on autosomal dominant nocturnal frontal lobe epilepsy: "understanding the nicotinic acetylcholine receptor (nAChR)". (15843070)
2005
16
Evidence for a fourth locus for autosomal dominant nocturnal frontal lobe epilepsy. (15245761)
2004
17
Autosomal dominant nocturnal frontal lobe epilepsy--a critical overview. (15316796)
2004
18
Calcium and Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE). (15346160)
2003
19
Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy. (12681012)
2003
20
Acetazolamide and autosomal dominant nocturnal frontal lobe epilepsy. (12823586)
2003
21
Genetic basis of autosomal dominant nocturnal frontal lobe epilepsy. (12773798)
2003
22
Evidence for S284L mutation of the CHRNA4 in a white family with autosomal dominant nocturnal frontal lobe epilepsy. (12887446)
2003
23
Schizophrenia, psychotic illness and other psychiatric symptoms in families with autosomal dominant nocturnal frontal lobe epilepsy caused by different mutations. (12782965)
2003
24
Molecular modelling of the interactions of carbamazepine and a nicotinic receptor involved in the autosomal dominant nocturnal frontal lobe epilepsy. (12110613)
2002
25
Exclusion of linkage of nine neuronal nicotinic acetylcholine receptor subunit genes expressed in brain in autosomal dominant nocturnal frontal lobe epilepsy in four unrelated families. (12195439)
2002
26
Autosomal dominant nocturnal frontal lobe epilepsy. (11968471)
2002
27
Neuronal nicotinic acetylcholine receptors and autosomal dominant nocturnal frontal lobe epilepsy: a critical review. (11512019)
2001
28
CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. (11104662)
2001
29
Autosomal dominant nocturnal frontal lobe epilepsy. (10961640)
2000
30
A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1. (11094099)
2000
31
Electroclinical picture of autosomal dominant nocturnal frontal lobe epilepsy in a Japanese family. (10643924)
2000
32
The macrostructure and microstructure of sleep in patients with autosomal dominant nocturnal frontal lobe epilepsy. (10709813)
2000
33
Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene. (10448807)
1999
34
A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy. (10563623)
1999
35
Autosomal dominant nocturnal frontal lobe epilepsy: an electroclinical study of a Norwegian family with ten affected members. (9924907)
1999
36
Neuronal nicotinic acetylcholine receptors: their properties and alterations in autosomal dominant nocturnal frontal lobe epilepsy. (10472659)
1999
37
Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsy. (9831911)
1998
38
Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. (9758605)
1998
39
Autosomal dominant nocturnal frontal lobe epilepsy]. (9773047)
1998
40
Autosomal dominant nocturnal frontal lobe epilepsy. A video-polysomnographic and genetic appraisal of 40 patients and delineation of the epileptic syndrome. (9549500)
1998
41
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) (9186260)
1997
42
Mutation causing autosomal dominant nocturnal frontal lobe epilepsy alters Ca2+ permeability, conductance, and gating of human alpha4beta2 nicotinic acetylcholine receptors. (9364050)
1997
43
Genetic heterogeneity in autosomal dominant nocturnal frontal lobe epilepsy. (9241568)
1997
44
Autosomal dominant nocturnal frontal lobe epilepsy: demonstration of focal frontal onset and intrafamilial variation. (9339675)
1997
45
An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy. (9175743)
1997
46
Autosomal dominant nocturnal frontal lobe epilepsy: electroclinical picture. (8822695)
1996
47
Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2. (7647781)
1995
48
Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder. (7895015)
1995
49
A missense mutation in the neuronal nicotinic acetylcholine receptor alpha-4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. (7550350)
1995
50
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (20301348)
1993

Genetic Variations for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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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

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Pathways for genes affiliated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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29KEGG, 49PharmGKB, 37NCBI BioSystems Database, 51QIAGEN, 53Reactome, 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
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6.2CRH, CHRNB2, CHRNA2, CHRNA3, CHRNA6, CHRNA4

Compounds for genes affiliated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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59Tocris Bioscience, 28IUPHAR, 44Novoseek, 11DrugBank, 49PharmGKB, 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 ditartrate5910.1CHRNB2, CHRNA4
2varenicline tartrate5910.1CHRNA4, CHRNB2
3sazetidine a dihydrochloride5910.0CHRNA4, CHRNB2
4rjr 2403 oxalate5910.0CHRNA4, CHRNB2
5desformylflustrabromine hydrochloride5910.0CHRNB2, CHRNA4
6ly2087101 289.7CHRNA2, CHRNA4
7ns1738 289.4CHRNA3, CHRNA4
8a-867744 289.3CHRNA3, CHRNA4
9[125i]epibatidine289.3CHRNA2, CHRNA3, CHRNA4
10[3h]cytisine289.2CHRNA2, CHRNA3, CHRNA4
11[3h]epibatidine289.2CHRNA2, CHRNA3, CHRNA4
12α-conotoxin-gic289.2CHRNA5, CHRNA3
13α-conotoxin txia289.2CHRNA5, CHRNA3
14α-conotoxin pnia289.1CHRNA5, CHRNA3
15varenicline44 1110.1CHRNA4, CHRNA6, CHRNA3
16α-conotoxin mii288.8CHRNA3, CHRNA6, CHRNA5
17hexamethonium44 289.7CHRNA2, CHRNA3, CHRNA6, CHRNA4
18drugs used in nicotine dependence498.7CHRNA5, CHRNA3
19acetylcholine44 49 28 11 2412.7CHRNA4, CHRNA3, CHRNB2, CRH
20mecamylamine28 44 1110.4CRH, CHRNA2, CHRNA3, CHRNA6, CHRNA4
21nicotine44 49 28 1110.0CHRNA5, CRH, CHRNB2, CHRNA2, CHRNA3, CHRNA6
22galantamine44 49 118.8CHRNB2, 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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3CDC
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26ICD10 via Orphanet
27ICD9CM
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