MCID: ATS011
MIFTS: 40

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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Aliases & Descriptions for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy:

Name: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 21 45 23 65
Adnfle 21 45 22 23
Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant 22 24
 
Epilepsy, Nocturnal Frontal Lobe, Type 1 65
Epilepsy, Nocturnal Frontal Lobe, 1 45
Enfl1 45

Classifications:



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UMLS65 C3696898, C1838049

Summaries for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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NIH Rare Diseases:45 Autosomal dominant nocturnal frontal lobe epilepsy (adnfle) is an uncommon, inherited form of epilepsy. signs and symptoms include seizures that usually occur at night during sleep. the seizures that occur in people with adnfle can last from a few seconds to a few minutes, and can vary from causing simple arousal from sleep to severe, dramatic muscle spasm events. some people with adnfle also have seizures during the day. some episodes may be misdiagnosed as nightmares, night terrors, or panic attacks. the onset of adnfle ranges from infancy to adulthood, but most cases begin in childhood. episodes tend to become milder and less frequent with age. adnfle is inherited in an autosomal dominant manner and may be caused by a mutation in any of several genes. in many cases, the genetic cause remains unknown. seizures can usually be controlled with antiseizure medications. last updated: 7/22/2015

MalaCards based summary: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy, also known as adnfle, is related to kcnt1-related nocturnal frontal lobe epilepsy, autosomal dominant and epilepsy, nocturnal frontal lobe, 1, and has symptoms including seizures An important gene associated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy is CHRNA4 (Cholinergic Receptor Nicotinic Alpha 4 Subunit), and among its related pathways are SIDS Susceptibility Pathways and Nicotine addiction. Affiliated tissues include prostate, endothelial and liver, and related mouse phenotype nervous system.

Genetics Home Reference:23 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.

Wikipedia:68 Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an epileptic disorder that causes... more...

GeneReviews summary for NBK1169

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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UMLS symptoms related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy:


seizures

Drugs & Therapeutics for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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Interventional clinical trials:

Search ClinicalTrials, 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 Dominant22 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:

33
Prostate, Endothelial, Liver, Ovary, T cells, B cells, Testes

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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.4CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNB1

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 70)
idTitleAuthorsYear
1
Mutational analysis of CHRNB2, CHRNA2 and CHRNA4 genes in Chinese population with autosomal dominant nocturnal frontal lobe epilepsy. (26309560)
2015
2
DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy. (24814846)
2014
3
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
4
Autism in siblings with autosomal dominant nocturnal frontal lobe epilepsy. (22883468)
2013
5
A novel prophylactic effect of furosemide treatment on autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). (24045013)
2013
6
Hippocampal sclerosis worsens autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) phenotype related to CHRNB2 mutation. (22897520)
2013
7
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. (23086396)
2012
8
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
9
Mutational analysis of CHRNB2 and CHRNA2 genes in southern Chinese population with autosomal dominant nocturnal frontal lobe epilepsy]. (21287502)
2011
10
Altered activity-rest patterns in mice with a human autosomal-dominant nocturnal frontal lobe epilepsy mutation in the I^2 nicotinic receptor. (20603624)
2011
11
Neuropsychological function in patients with a single gene mutation associated with autosomal dominant nocturnal frontal lobe epilepsy. (20189461)
2010
12
Nicotine normalizes intracellular subunit stoichiometry of nicotinic receptors carrying mutations linked to autosomal dominant nocturnal frontal lobe epilepsy. (19237585)
2009
13
Reduced striatal D1 receptor binding in autosomal dominant nocturnal frontal lobe epilepsy. (18685138)
2008
14
Autosomal dominant nocturnal frontal lobe epilepsy and mild memory impairment associated with CHRNB2 mutation I312M in the neuronal nicotinic acetylcholine receptor. (18534914)
2008
15
The multifaceted role of inhibition in epilepsy: seizure-genesis through excessive GABAergic inhibition in autosomal dominant nocturnal frontal lobe epilepsy. (18317273)
2008
16
Autosomal dominant nocturnal frontal lobe epilepsy with a mutation in the CHRNB2 gene. (17900292)
2008
17
Is too much inhibition to blame in autosomal dominant nocturnal frontal lobe epilepsy? (17694173)
2007
18
A major role of the nicotinic acetylcholine receptor gene CHRNA2 in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is unlikely. (17602836)
2007
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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Clinvar genetic disease variations for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CHRNA4NM_000744.6(CHRNA4): c.851C> T (p.Ser284Leu)single nucleotide variantPathogenicrs28931591GRCh37Chr 20, 61981912: 61981912

Expression for genes affiliated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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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 Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.4CHRFAM7A, CHRNA4, CHRNB2
29.0CHRFAM7A, CHRNA4, CHRNA6, CHRNB2
3
Show member pathways
8.6CHRFAM7A, CHRNA3, CHRNA4, CHRNA6, CHRNB2
4
Show member pathways
8.3CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNB2
5
Show member pathways
7.7CHRFAM7A, CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6
6
Show member pathways
6.9CHRFAM7A, CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6
7
Show member pathways
6.9CHRFAM7A, CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6
8
Show member pathways
6.3CHRFAM7A, CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6
9
Show member pathways
6.0CHRFAM7A, CHRNA2, CHRNA3, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1integral component of membraneGO:00160216.8CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNB1

Biological processes related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy according to GeneCards Suite gene sharing:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1cognitionGO:005089010.5CHRNA4, CHRNB2
2action potentialGO:000150810.5CHRNA4, CHRNB2
3regulation of dopamine secretionGO:001405910.4CHRNA4, CHRNB2
4calcium ion transportGO:000681610.3CHRNA4, CHRNB2
5membrane depolarizationGO:005189910.3CHRNA4, CHRNB2
6behavioral response to nicotineGO:003509510.2CHRNB1, CHRNB2
7sensory perception of painGO:001923310.0CHRNA4, CHRNB2
8response to cocaineGO:00422209.9CHRNB2, CRH
9neuromuscular synaptic transmissionGO:00072749.8CHRNA4, CHRNB1, CHRNB2
10protein heterooligomerizationGO:00512919.2CHRNA2, CHRNA3, CHRNB2, CHRNB3
11regulation of membrane potentialGO:00423919.1CHRNA3, CHRNA4, CHRNB1, CHRNB2
12ion transportGO:00068117.7CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNB2
13cation transmembrane transportGO:00986557.1CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNB1
14synaptic transmission, cholinergicGO:00072717.0CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNB1
15transportGO:00068106.4CHRFAM7A, CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6
16signal transductionGO:00071656.2CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNB1

Molecular functions related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ligand-gated ion channel activityGO:00152769.5CHRNA2, CHRNB2, CHRNB3
2channel activityGO:00152679.4CHRNB1, CHRNB3
3extracellular ligand-gated ion channel activityGO:00052307.4CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNB1, CHRNB3
4acetylcholine receptor activityGO:00154646.7CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNB1

Sources for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet