MCID: ATS011
MIFTS: 38

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy malady

Genetic diseases (common) category
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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 based summary: 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 SIDS Susceptibility Pathways. 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:65 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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Autosomal Dominant Nocturnal Frontal Lobe Epilepsy, Aliases & Descriptions:

Name: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 19 20 21 62
 
Adnfle 19 21 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


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

Symptoms for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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Drugs & Therapeutics for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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Drug clinical trials:

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Search NIH Clinical Center for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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:00053868.0CRH, CHRNA3, CHRNB2, CHRNA5, CHRNA4, CHRNB3
2MP:00036316.8CRH, CHRNB1, CHRNA2, CHRNA4, CHRNA5, CHRNA6

Publications for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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Articles related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy:

(show top 50)    (show all 67)
idTitleAuthorsYear
1
DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy. (24814846)
2014
2
Multi-electrode array study of neuronal cultures expressing nicotinic I^2-V287L subunits, linked to autosomal dominant nocturnal frontal lobe epilepsy. An in vitro model of spontaneous epilepsy. (25104926)
2014
3
Autism in siblings with autosomal dominant nocturnal frontal lobe epilepsy. (22883468)
2013
4
A novel prophylactic effect of furosemide treatment on autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). (24045013)
2013
5
Hippocampal sclerosis worsens autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) phenotype related to CHRNB2 mutation. (22897520)
2013
6
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. (23086396)
2012
7
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
8
Mutational analysis of CHRNB2 and CHRNA2 genes in southern Chinese population with autosomal dominant nocturnal frontal lobe epilepsy]. (21287502)
2011
9
Altered activity-rest patterns in mice with a human autosomal-dominant nocturnal frontal lobe epilepsy mutation in the I^2 nicotinic receptor. (20603624)
2011
10
Neuropsychological function in patients with a single gene mutation associated with autosomal dominant nocturnal frontal lobe epilepsy. (20189461)
2010
11
Nicotine normalizes intracellular subunit stoichiometry of nicotinic receptors carrying mutations linked to autosomal dominant nocturnal frontal lobe epilepsy. (19237585)
2009
12
Reduced striatal D1 receptor binding in autosomal dominant nocturnal frontal lobe epilepsy. (18685138)
2008
13
Autosomal dominant nocturnal frontal lobe epilepsy and mild memory impairment associated with CHRNB2 mutation I312M in the neuronal nicotinic acetylcholine receptor. (18534914)
2008
14
The multifaceted role of inhibition in epilepsy: seizure-genesis through excessive GABAergic inhibition in autosomal dominant nocturnal frontal lobe epilepsy. (18317273)
2008
15
Autosomal dominant nocturnal frontal lobe epilepsy with a mutation in the CHRNB2 gene. (17900292)
2008
16
Is too much inhibition to blame in autosomal dominant nocturnal frontal lobe epilepsy? (17694173)
2007
17
A major role of the nicotinic acetylcholine receptor gene CHRNA2 in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is unlikely. (17602836)
2007
18
Tobacco habits modulate autosomal dominant nocturnal frontal lobe epilepsy. (16931165)
2006
19
Mutations linked to autosomal dominant nocturnal frontal lobe epilepsy affect allosteric Ca2+ activation of the alpha 4 beta 2 nicotinic acetylcholine receptor. (15901849)
2005
20
Evidence for a fourth locus for autosomal dominant nocturnal frontal lobe epilepsy. (15245761)
2004
21
Autosomal dominant nocturnal frontal lobe epilepsy--a critical overview. (15316796)
2004
22
Calcium and Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE). (15346160)
2003
23
Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy. (12681012)
2003
24
Acetazolamide and autosomal dominant nocturnal frontal lobe epilepsy. (12823586)
2003
25
Genetic basis of autosomal dominant nocturnal frontal lobe epilepsy. (12773798)
2003
26
A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation. (14623738)
2003
27
Evidence for S284L mutation of the CHRNA4 in a white family with autosomal dominant nocturnal frontal lobe epilepsy. (12887446)
2003
28
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
29
Molecular modelling of the interactions of carbamazepine and a nicotinic receptor involved in the autosomal dominant nocturnal frontal lobe epilepsy. (12110613)
2002
30
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
31
Neuronal nicotinic acetylcholine receptors and autosomal dominant nocturnal frontal lobe epilepsy: a critical review. (11512019)
2001
32
Autosomal dominant nocturnal frontal lobe epilepsy. (10961640)
2000
33
A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1. (11094099)
2000
34
Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene. (10448807)
1999
35
Mutated nicotinic receptors responsible for autosomal dominant nocturnal frontal lobe epilepsy are more sensitive to carbamazepine. (10487182)
1999
36
A family with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation. (9840354)
1998
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
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
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

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3CHRNA4, CHRNA6, CHRNB2
29.0CHRNB2, CHRNA4, CHRFAM7A
3
Show member pathways
8.7CHRNA3, CHRNB2, CHRNA6, CHRNA4
4
Show member pathways
Nicotine Activity on Dopaminergic Neurons37
8.2CHRNA4, CHRNA5, CHRNA6, CHRNB2, CHRNA3
5
Show member pathways
8.1CHRNA3, CHRNA6, CHRNA5, CHRNA4, CHRNA2
6
Show member pathways
7.0CHRNB1, CHRNA2, CHRNB3, CHRNA4, CHRNA5, CHRNA6
77.0CHRNA3, CHRNB1, CHRNB2, CHRNA6, CHRNA5, CHRNA4
8
Show member pathways
6.7CHRNB1, CHRNA2, CHRNB3, CHRNA4, CHRNA5, CHRNA6
9
Show member pathways
6.6CHRNA2, CHRNB3, CHRFAM7A, CHRNA4, CHRNA5, CHRNA6
10
Show member pathways
6.6CHRNA2, CHRNB3, CHRFAM7A, CHRNA4, CHRNA5, CHRNA6

Compounds for genes affiliated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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

(show all 23)
idCompoundScoreTop Affiliating Genes
1(-)-nicotine ditartrate6110.1CHRNA4, CHRNB2
2varenicline tartrate6110.1CHRNB2, CHRNA4
3sazetidine a dihydrochloride6110.1CHRNB2, CHRNA4
4rjr 2403 oxalate6110.1CHRNB2, CHRNA4
5desformylflustrabromine hydrochloride6110.1CHRNA4, CHRNB2
6ly2087101 289.9CHRNA2, CHRNA4
7ns1738 289.6CHRNA4, CHRNA3
8a-867744 289.5CHRNA4, CHRNA3
9alpha-conotoxin txia289.5CHRNA3, CHRNA5
10alpha-conotoxin-gic289.5CHRNA3, CHRNA5
11[3h]cytisine289.5CHRNA2, CHRNA4, CHRNA3
12[125i]epibatidine289.5CHRNA2, CHRNA4, CHRNA3
13[3h]epibatidine289.5CHRNA2, CHRNA4, CHRNA3
14alpha-conotoxin pnia289.5CHRNA3, CHRNA5
15sodium44 2410.5CHRNB2, CHRNA4, KCNT1
16varenicline44 1110.3CHRNA3, CHRNA6, CHRNA4
17drugs used in nicotine dependence509.2CHRNA3, CHRNA5
18alpha-conotoxin mii289.1CHRNA5, CHRNA6, CHRNA3
19hexamethonium44 2810.0CHRNA2, CHRNA4, CHRNA6, CHRNA3
20mecamylamine44 28 1110.7CHRNA2, CHRNA4, CHRNA6, CHRNA3, CRH
21acetylcholine44 50 28 24 1112.6CHRNA4, CHRNB2, CHRNA3, CRH
22nicotine44 28 50 1110.5CRH, CHRNA2, CHRNB3, CHRNA4, CHRNA5, CHRNA6
23galantamine44 50 119.3CHRNB1, CHRNA2, CHRNB3, CHRNA4, CHRNA5, CHRNA6

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

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

idNameGO IDScoreTop Affiliating Genes
1integral component of membraneGO:0160217.6CHRNA3, CHRNB2, CHRNA4, CHRFAM7A, CHRNB3, CHRNA2
2plasma membraneGO:0058867.1CHRNA2, CHRNB3, CHRNA4, CHRNA5, CHRNA6, CHRNB2
3acetylcholine-gated channel complexGO:0058927.0CHRNA3, CHRNB1, CHRNB2, CHRNA6, CHRNA5, CHRNA4
4postsynaptic membraneGO:0452117.0CHRNB1, CHRNA2, CHRNB3, CHRNA4, CHRNA5, CHRNA6
5cell junctionGO:0300546.9CHRNB1, CHRNA2, CHRNB3, CHRNA4, CHRNA5, CHRNA6

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

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1associative learningGO:00830610.1CRH, CHRNB2
2action potentialGO:00150810.1CHRNB2, CHRNA4
3cognitionGO:05089010.0CHRNA4, CHRNB2
4response to nicotineGO:03509410.0CHRNB2, CHRNA4
5B cell activationGO:0421139.9CHRNA4, CHRNB2
6response to ethanolGO:0454719.9CRH, CHRNB2
7synaptic transmission involved in micturitionGO:0600849.8CHRNB2, CHRNA3
8regulation of dendrite morphogenesisGO:0488149.8CHRNB2, CHRNA3
9neurological system processGO:0508779.8CHRNB1, CHRNA4, CHRNB2
10sensory perception of painGO:0192339.8CHRNA4, CHRNB2
11regulation of dopamine secretionGO:0140599.6CHRNA4, CHRNA6, CHRNB2
12protein heterooligomerizationGO:0512919.6CHRNB2, CHRNB3, CHRNA2
13membrane depolarizationGO:0518999.6CHRNA4, CHRNA6, CHRNB2
14calcium ion transportGO:0068169.6CHRNB2, CHRNA4
15locomotory behaviorGO:0076269.5CHRNA3, CHRNB2, CHRNA4
16regulation of membrane potentialGO:0423919.4CHRNB1, CHRNA4, CHRNA3
17ion transportGO:0068119.2CHRNA3, CHRNB2, CHRNA4, CHRNA2
18transportGO:0068109.0CHRNA6, CHRNA5, CHRNB3
19synaptic transmission, cholinergicGO:0072718.7CHRNB1, CHRNB3, CHRNA4, CHRNB2, CHRNA3
20behavioral response to nicotineGO:0350958.7CHRNB1, CHRNA4, CHRNA5, CHRNB2, CHRNA3
21ion transmembrane transportGO:0342208.6CHRNB1, CHRNA4, CHRNA5, CHRNB2, CHRNA3
22cation transportGO:0068128.0CHRNA3, CHRNB1, CHRNA2, CHRNB3, CHRNA5, CHRNA6
23synaptic transmissionGO:0072687.4CHRNA2, CHRNB3, CHRNA4, CHRNA5, CHRNA6, CHRNB2
24signal transductionGO:0071657.0CHRNB1, CHRNA2, CHRNB3, CHRNA4, CHRNA5, CHRNA6

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

idNameGO IDScoreTop Affiliating Genes
1channel activityGO:0152679.6CHRNB3, CHRNB1
2drug bindingGO:0081449.1CHRNB2, CHRNB3, CHRNA2
3ligand-gated ion channel activityGO:0152768.2CHRNB1, CHRNA4, CHRNA5, CHRNB2, CHRNA3
4acetylcholine bindingGO:0421668.0CHRNA3, CHRNB2, CHRNA4, CHRNB3, CHRNA2, CHRNB1
5acetylcholine receptor activityGO:0154647.5CHRNA4, CHRNA2, CHRNB1, CHRNA5, CHRNA6, CHRNA3
6acetylcholine-activated cation-selective channel activityGO:0048897.1CHRNA3, CHRNB2, CHRNA6, CHRNA5, CHRNA4, CHRNB3

Products for genes affiliated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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Sources for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
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58SNOMED-CT via Orphanet
62UMLS
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