MCID: ATS011
MIFTS: 39

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. 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 b cells, ovary and thyroid, 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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Diseases related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 81)
idRelated DiseaseScoreTop Affiliating Genes
1kcnt1-related nocturnal frontal lobe epilepsy, autosomal dominant12.8
2epilepsy, nocturnal frontal lobe, 112.3
3chrna2-related nocturnal frontal lobe epilepsy, autosomal dominant11.8
4chrna4-related nocturnal frontal lobe epilepsy, autosomal dominant11.8
5chrnb2-related nocturnal frontal lobe epilepsy, autosomal dominant11.8
6cerebritis10.6
7rheumatoid arthritis10.4
8neuroblastoma10.4
9colorectal cancer10.4
10systemic lupus erythematosus10.4
11hiv-110.4
12prostate cancer10.4
13breast cancer10.4
14myelodysplastic syndrome10.4
15beckwith-wiedemann syndrome10.4
16alzheimer disease10.4
17panic disorder10.4
18fabry disease10.4
19hemochromatosis10.4
20arthritis10.4
21liver cirrhosis10.4
22pemphigus vulgaris10.4
23sinusitis10.4
24thalassemia10.4
25thrombocytopenia10.4
26brugada syndrome10.4
27maturity-onset diabetes of the young10.4
28omphalocele10.4
29lactose intolerance10.4
30choroiditis10.4
31blastomycosis10.4
32gynecomastia10.4
33dementia10.4
34paranasal sinus disease10.4
35kwashiorkor10.4
36prostatitis10.4
37methylmalonic acidemia10.4
38vascular disease10.4
39langerhans-cell histiocytosis10.4
40dermatitis10.4
41severe acute respiratory syndrome10.4
42nemaline myopathy10.4
43ischemia10.4
44syringomyelia10.4
45histiocytosis10.4
46choriocarcinoma10.4
47congenital myasthenic syndrome10.4
48myopathy10.4
49acquired immunodeficiency syndrome10.4
50polycythemia10.4

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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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
B cells, Ovary, Thyroid, Prostate, Testes, Endothelial, T cells

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
An insertion/deletion polymorphism at miRNA-122 binding site in the IL1A is associated with a reduced risk of cervical squamous cell carcinoma. (25955681)
2015
2
Eosinophilic cystitis and idiopathic hypereosinophilic syndrome in an eight-year-old girl. (25394455)
2014
3
Fulminant systemic capillary leak syndrome due to C1 inhibitor deficiency complicating acute dermatomyositis: a case report. (24467750)
2014
4
Higher leptin is associated with hypertension: the Multi-Ethnic Study of Atherosclerosis. (23535989)
2013
5
Fetal MRI of hereditary multiple intestinal atresia with postnatal correlation. (24096803)
2013
6
Neural progenitors derived from human induced pluripotent stem cells survive and differentiate upon transplantation into a rat model of amyotrophic lateral sclerosis. (23413376)
2013
7
IgG4 plasma cell myeloma: new insights into the pathogenesis of IgG4-related disease. (24030741)
2013
8
Onabotulinumtoxin A(Ar) injections: A safety review of children with clubfoot under 2 years of age at BC Children's Hospital. (24268889)
2013
9
Preparation and identification of monoclonal antibody against human Flt-1]. (22558992)
2012
10
Randomised clinical trial: the burden of illness of uninvestigated dyspepsia before and after treatment with esomeprazole--results from the STARS II study. (21848799)
2011
11
Torque teno virus 10 isolated by genome amplification techniques from a patient with concomitant chronic lymphocytic leukemia and polycythemia vera. (21953418)
2011
12
Colistin susceptibility testing: evaluation of reliability for cystic fibrosis isolates of Pseudomonas aeruginosa and Stenotrophomonas maltophilia. (20430789)
2010
13
Steric titration of arylthiolate coordination modes at pseudotetrahedral nickel(II) centers. (20000833)
2010
14
Pulmonary adenocarcinoma and endogenous lipid pneumonia in a common genet (Genetta genetta). (21370654)
2010
15
Association of the DRD2 gene Taq1A polymorphism and smoking behavior: a meta-analysis and new data. (19246443)
2009
16
Biodegradation of methyl tert-butyl ether by enriched bacterial culture. (19319597)
2009
17
Low serum mannose-binding lectin level increases the risk of death due to pneumococcal infection. (18611155)
2008
18
Atorvastatin attenuates transplant-associated coronary arteriosclerosis in a murine model of cardiac transplantation. (17258886)
2007
19
Charge differences between in vivo deposits in immunoglobulin light chain amyloidosis and non-amyloid light chain deposition disease. (17223908)
2007
20
Quinolone analogue inhibits tubulin polymerization and induces apoptosis via Cdk1-involved signaling pathways. (17475221)
2007
21
Unilateral gynecomastia. (16508374)
2006
22
Effects of sulfated polysaccharides on tumour biology. (17249315)
2006
23
Modeling the impact of store-operated Ca2+ entry on intracellular Ca2+ oscillations. (16620876)
2006
24
Results of iterative surgery for persistent and recurrent parathyroid carcinoma. (15933877)
2005
25
Condensed mitotic chromatin is accessible to transcription factors and chromatin structural proteins. (15623580)
2005
26
Elevated maternal mid-trimester chorionic gonadotropin > or =4 MoM is associated with fetal cerebral blood flow redistribution. (12580835)
2003
27
Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. (12789646)
2003
28
X-irradiated human lymphocytes with unstable aberrations and their preferential elimination by p53/survivin-dependent apoptosis. (14713572)
2003
29
Sensitization of defense responses and activation of programmed cell death by a pathogen-induced receptor-like protein kinase in Arabidopsis. (14756307)
2003
30
Results of acoustic neuroma radiosurgery: an analysis of 5 years' experience using current methods. (11147876)
2001
31
Effects of selective inhibition of the endothelin A and B receptors on hypoxic pulmonary vasoconstriction in newborn piglets. (11565204)
2001
32
T-cell involvement in drug-induced acute generalized exanthematous pustulosis. (11390425)
2001
33
Electrophoretic analysis of glycoprotein glycans produced by lepidopteran insect cells infected with an immediate early recombinant baculovirus encoding mammalian beta1,4-galactosyltransferase. (11133014)
1999
34
Multiple primary tumors of the upper aerodigestive tract: is there a role for constitutional mutations in the p53 gene? (10389749)
1999
35
Human osteosarcomas inhibit hematopoietic colony formation: partial reversal by antibody to transforming growth factor-beta 1. (9315339)
1997
36
Helicobacter pylori and gastric acid: biological and therapeutic implications. (8608904)
1996
37
Demonstration of delayed hypersensitivity in Chlamydia trachomatis salpingitis in monkeys: a pathogenic mechanism of tubal damage. (8158051)
1994
38
Effect of psyllium, calcium polycarbophil, and wheat bran on secretory diarrhea induced by phenolphthalein. (8385040)
1993
39
A trypsin-like serine protease activity on activated human B cells and various B cell lines. (1396962)
1992
40
Influence of endothelin on human platelet aggregation and prostacyclin generation from human vascular endothelial cells in culture. (1318427)
1992
41
Pharmacological properties of lorglumide as a member of a new class of cholecystokinin antagonists. (3440035)
1987
42
Malignant hypertension: aetiology and outcome in 83 patients. (3769220)
1986
43
Intracapsular pressure and hemarthrosis following femoral neck fracture. (6692612)
1984
44
"Late" recovery of the right ear dichotic score following cerebrovascular accident: a case report. (6664489)
1983
45
Experimental intestinal atresia in the rabbit fetus. Sequential pathological studies. (5081731)
1972
46
Patterns of desquamative interstitial pneumonia (D.I.P.) and diffuse interstitial pulmonary fibrosis (D.I.P.F.). (5038629)
1972
47
Bronchial disease and bronchography in pulmonary tuberculosis. (13560785)
1958
48
Involutional melancholia and depressive states: results of treatment over a 5-year period. (14888627)
1951
49
Spastic entropion correction; Wheeler's orbicularis advancement. (18114398)
1949
50
The Value of Calcium Salts in the Treatment of acute Epididymitis and other Complications of GonorrhA9a: EPIDIDYMITIS. (21773208)
1936

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