MCID: ATS011
MIFTS: 38

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 22 46 24 66
Adnfle 22 46 23 24
Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant 23 25
 
Epilepsy, Nocturnal Frontal Lobe, Type 1 66
Epilepsy, Nocturnal Frontal Lobe, 1 46
Enfl1 46

Classifications:



Summaries for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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NIH Rare Diseases:46 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 epilepsy, nocturnal frontal lobe, 1 and chrna2-related nocturnal frontal lobe epilepsy, autosomal dominant, 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 Nicotine addiction and SIDS Susceptibility Pathways. Affiliated tissues include brain, and related mouse phenotype nervous system.

Genetics Home Reference:24 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:69 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 the top 20 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 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy25
2 Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant23 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:

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036316.8CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7

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 71)
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
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
4
Clinical features and mutation analysis of CHRNA4 gene for families and sporadic cases affected with autosomal dominant nocturnal frontal lobe epilepsy]. (24327142)
2013
5
Autism in siblings with autosomal dominant nocturnal frontal lobe epilepsy. (22883468)
2013
6
A novel prophylactic effect of furosemide treatment on autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). (24045013)
2013
7
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. (23086396)
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
Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation. (21753767)
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
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
Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability. (18479385)
2008
17
Reduced striatal D1 receptor binding in autosomal dominant nocturnal frontal lobe epilepsy. (18685138)
2008
18
Further evidence of genetic heterogeneity in families with autosomal dominant nocturnal frontal lobe epilepsy. (17324557)
2007
19
Is too much inhibition to blame in autosomal dominant nocturnal frontal lobe epilepsy? (17694173)
2007
20
Tobacco habits modulate autosomal dominant nocturnal frontal lobe epilepsy. (16931165)
2006
21
Seizures and enhanced cortical GABAergic inhibition in two mouse models of human autosomal dominant nocturnal frontal lobe epilepsy. (17146052)
2006
22
Evidence for a fourth locus for autosomal dominant nocturnal frontal lobe epilepsy. (15245761)
2004
23
Autosomal dominant nocturnal frontal lobe epilepsy--a critical overview. (15316796)
2004
24
Genetic basis of autosomal dominant nocturnal frontal lobe epilepsy. (12773798)
2003
25
Schizophrenia, psychotic illness and other psychiatric symptoms in families with autosomal dominant nocturnal frontal lobe epilepsy caused by different mutations. (12782965)
2003
26
Calcium and Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE). (15346160)
2003
27
Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy. (12681012)
2003
28
Acetazolamide and autosomal dominant nocturnal frontal lobe epilepsy. (12823586)
2003
29
Molecular modelling of the interactions of carbamazepine and a nicotinic receptor involved in the autosomal dominant nocturnal frontal lobe epilepsy. (12110613)
2002
30
Autosomal dominant nocturnal frontal lobe epilepsy. (11968471)
2002
31
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
32
Neuronal nicotinic acetylcholine receptors and autosomal dominant nocturnal frontal lobe epilepsy: a critical review. (11512019)
2001
33
CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. (11104662)
2001
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 novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy. (10563623)
1999
37
Autosomal dominant nocturnal frontal lobe epilepsy: an electroclinical study of a Norwegian family with ten affected members. (9924907)
1999
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
A family with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation. (9840354)
1998
42
An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy. (9175743)
1997
43
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) (9186260)
1997
44
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) (9186259)
1997
45
Mutation causing autosomal dominant nocturnal frontal lobe epilepsy alters Ca2+ permeability, conductance, and gating of human alpha4beta2 nicotinic acetylcholine receptors. (9364050)
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
A missense mutation in the neuronal nicotinic acetylcholine receptor alpha-4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. (7550350)
1995
49
Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder. (7895015)
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

Copy number variations for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
120072115300000153300000Copy numberCHRNB2Autosomal dominant nocturnal frontal lobe epilepsy
2155269205440000062435964Copy numberCHRNA4Autosomal dominant nocturnal frontal lobe epilepsy

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
19.1CHRNA4, CHRNA6, CHRNA7, CHRNB2
29.0CHRFAM7A, CHRNA4, CHRNA7, CHRNB2
3
Show member pathways
8.5CHRNA3, CHRNA4, CHRNA6, CHRNA7, CHRNB2
4
Show member pathways
8.1CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNB2
5
Show member pathways
7.7CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7
6
Show member pathways
7.0CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7
7
Show member pathways
7.0CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7
8
Show member pathways
6.5CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7
9
Show member pathways
6.2CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7

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
1external side of plasma membraneGO:000989710.0CHRNA4, CHRNA7, CHRNB2
2neuronal cell bodyGO:00430258.2CHRNA3, CHRNA4, CHRNA5, CRH
3acetylcholine-gated channel complexGO:00058927.1CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7
4postsynaptic membraneGO:00452116.8CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7
5cell junctionGO:00300546.6CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7
6plasma membraneGO:00058866.5CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7

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

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1action potentialGO:000150810.5CHRNA4, CHRNB2
2regulation of synaptic transmission, dopaminergicGO:003222510.3CHRNA7, CHRNB2
3membrane depolarizationGO:005189910.2CHRNA4, CHRNA6, CHRNB2
4regulation of dendrite morphogenesisGO:004881410.2CHRNA3, CHRNB2
5synaptic transmission involved in micturitionGO:006008410.2CHRNA3, CHRNB2
6neurological system processGO:005087710.0CHRNA4, CHRNB1, CHRNB2
7B cell activationGO:004211310.0CHRNA4, CHRNA7, CHRNB2
8response to cocaineGO:00422209.9CHRNB2, CRH
9calcium ion transportGO:00068169.9CHRNA4, CHRNA7, CHRNB2
10cognitionGO:00508909.9CHRNA4, CHRNA7, CHRNB2
11regulation of dopamine secretionGO:00140599.8CHRNA4, CHRNA6, CHRNB2
12response to hypoxiaGO:00016669.7CHRNA4, CHRNA7, CHRNB2
13response to ethanolGO:00454719.6CHRNA7, CHRNB2, CRH
14locomotory behaviorGO:00076269.4CHRNA3, CHRNA4, CHRNB2
15protein heterooligomerizationGO:00512919.4CHRNA2, CHRNA3, CHRNB2, CHRNB3
16associative learningGO:00083069.2CHRNA7, CHRNB2, CRH
17ion transportGO:00068119.0CHRNA2, CHRNA3, CHRNA4, CHRNA7, CHRNB2
18regulation of membrane potentialGO:00423918.8CHRNA3, CHRNA4, CHRNA7, CHRNB1, CHRNB2
19chemical synaptic transmissionGO:00072688.7CHRNA4, CHRNA5, CHRNA6, CRH
20neuromuscular synaptic transmissionGO:00072748.1CHRNA2, CHRNA4, CHRNA5, CHRNA6, CHRNB1, CHRNB2
21behavioral response to nicotineGO:00350958.1CHRNA3, CHRNA4, CHRNA5, CHRNA7, CHRNB1, CHRNB2
22response to nicotineGO:00350947.9CHRNA2, CHRNA4, CHRNA5, CHRNA6, CHRNA7, CHRNB2
23chemical synaptic transmission, postsynapticGO:00995657.6CHRNA2, CHRNA5, CHRNA6, CHRNA7, CHRNB1, CHRNB2
24synaptic transmission, cholinergicGO:00072717.0CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7
25cation transmembrane transportGO:00986557.0CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7
26signal transductionGO:00071656.2CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7

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

idNameGO IDScoreTop Affiliating Genes
1channel activityGO:00152679.9CHRNB1, CHRNB3
2drug bindingGO:00081448.9CHRNA2, CHRNA3, CHRNB2, CHRNB3
3acetylcholine receptor activityGO:00154646.8CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7
4acetylcholine-activated cation-selective channel activityGO:00048896.8CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7
5acetylcholine bindingGO:00421666.8CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7
6ligand-gated ion channel activityGO:00152766.5CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7

Sources for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet