MCID: ATS011
MIFTS: 37

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

MalaCards integrated aliases for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy:

Name: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 12 24 53 25 37 29 6 15 73
Adnfle 24 53 25
Epilepsy, Nocturnal Frontal Lobe, Type 1 73
Epilepsy, Nocturnal Frontal Lobe, 1 53
Enfl1 53
Enfl 12

Characteristics:

GeneReviews:

24
Penetrance Penetrance is estimated at 70%. kcnt1-related adnfle demonstrates complete penetrance compared to 60%-80% in nachr-related adnfle...

Classifications:



External Ids:

Disease Ontology 12 DOID:0060681
KEGG 37 H00807

Summaries for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

NIH Rare Diseases : 53 Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon, inherited form of epilepsy. People with ADNFLE have seizures that usually occur at night during sleep. Some people with ADNFLE also have seizures during the day. These seizures can last from a few seconds to a few minutes, and can vary from causing simple arousal from sleep, to dramatic muscle spasms and movements. 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. It is diagnosed based on symptoms and the results of tests such as an EEG. ADNFLE is inherited in an autosomal dominant manner and may be caused by a mutation in any of several genes. In most cases however, the genetic cause is not found. Seizures can usually be controlled with anti-seizure medications.

MalaCards based summary : Autosomal Dominant Nocturnal Frontal Lobe Epilepsy, also known as adnfle, is related to autosomal dominant nocturnal frontal lobe epilepsy 2 and epilepsy, nocturnal frontal lobe, 3. An important gene associated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy is CRH (Corticotropin Releasing Hormone), and among its related pathways/superpathways are Neuroactive ligand-receptor interaction and Cholinergic synapse. Affiliated tissues include testes and brain, and related phenotypes are behavior/neurological and nervous system

Genetics Home Reference : 25 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.

Disease Ontology : 12 A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations.

GeneReviews: NBK1169

Related Diseases for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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 & Phenotypes for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.5 CHRNA3 CHRNA4 CHRNA5 CHRNB2 CRH DEPDC5
2 nervous system MP:0003631 9.23 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2 CRH

Drugs & Therapeutics for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 PET Study of the Nicotinic System in Epilepsy Completed NCT03268369 Not Applicable

Search NIH Clinical Center for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Genetic Tests for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Genetic tests related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy:

# Genetic test Affiliating Genes
1 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 29

Anatomical Context for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

MalaCards organs/tissues related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy:

41
Testes, Brain

Publications for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Articles related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy:

(show top 50) (show all 72)
# Title Authors Year
1
Exome sequencing identified a novel missense mutation c.464G&amp;gt;A (p.G155D) in Ca<sup>2+</sup>-binding protein 4 (<i>CABP4</i>) in a Chinese pedigree with autosomal dominant nocturnal frontal lobe epilepsy. ( 29108277 )
2017
2
Mutation Linked to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Reduces Low-Sensitivity I+4I^2, and Increases I+5I+4I^2, Nicotinic Receptor Surface Expression. ( 27336596 )
2016
3
Mutational analysis of CHRNB2, CHRNA2 and CHRNA4 genes in Chinese population with autosomal dominant nocturnal frontal lobe epilepsy. ( 26309560 )
2015
4
The role of nicotinic acetylcholine receptors in autosomal dominant nocturnal frontal lobe epilepsy. ( 25717303 )
2015
5
DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy. ( 24814846 )
2014
6
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
7
Autism in siblings with autosomal dominant nocturnal frontal lobe epilepsy. ( 22883468 )
2013
8
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
9
A novel prophylactic effect of furosemide treatment on autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). ( 24045013 )
2013
10
Hippocampal sclerosis worsens autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) phenotype related to CHRNB2 mutation. ( 22897520 )
2013
11
[Clinical features and mutation analysis of CHRNA4 gene for families and sporadic cases affected with autosomal dominant nocturnal frontal lobe epilepsy]. ( 24327142 )
2013
12
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. ( 23086396 )
2012
13
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
14
Altered activity-rest patterns in mice with a human autosomal-dominant nocturnal frontal lobe epilepsy mutation in the I^2 nicotinic receptor. ( 20603624 )
2011
15
[Mutational analysis of CHRNB2 and CHRNA2 genes in southern Chinese population with autosomal dominant nocturnal frontal lobe epilepsy]. ( 21287502 )
2011
16
Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation. ( 21753767 )
2011
17
Neuropsychological function in patients with a single gene mutation associated with autosomal dominant nocturnal frontal lobe epilepsy. ( 20189461 )
2010
18
Nicotine normalizes intracellular subunit stoichiometry of nicotinic receptors carrying mutations linked to autosomal dominant nocturnal frontal lobe epilepsy. ( 19237585 )
2009
19
Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability. ( 18479385 )
2008
20
K-complex-induced seizures in autosomal dominant nocturnal frontal lobe epilepsy. ( 18762450 )
2008
21
The multifaceted role of inhibition in epilepsy: seizure-genesis through excessive GABAergic inhibition in autosomal dominant nocturnal frontal lobe epilepsy. ( 18317273 )
2008
22
Autosomal dominant nocturnal frontal lobe epilepsy and mild memory impairment associated with CHRNB2 mutation I312M in the neuronal nicotinic acetylcholine receptor. ( 18534914 )
2008
23
Reduced striatal D1 receptor binding in autosomal dominant nocturnal frontal lobe epilepsy. ( 18685138 )
2008
24
Autosomal dominant nocturnal frontal lobe epilepsy with a mutation in the CHRNB2 gene. ( 17900292 )
2008
25
Nicotine-induced dystonic arousal complex in a mouse line harboring a human autosomal-dominant nocturnal frontal lobe epilepsy mutation. ( 17881519 )
2007
26
Further evidence of genetic heterogeneity in families with autosomal dominant nocturnal frontal lobe epilepsy. ( 17324557 )
2007
27
A major role of the nicotinic acetylcholine receptor gene CHRNA2 in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is unlikely. ( 17602836 )
2007
28
Is too much inhibition to blame in autosomal dominant nocturnal frontal lobe epilepsy? ( 17694173 )
2007
29
Tobacco habits modulate autosomal dominant nocturnal frontal lobe epilepsy. ( 16931165 )
2006
30
Seizures and enhanced cortical GABAergic inhibition in two mouse models of human autosomal dominant nocturnal frontal lobe epilepsy. ( 17146052 )
2006
31
Mutations linked to autosomal dominant nocturnal frontal lobe epilepsy affect allosteric Ca2+ activation of the alpha 4 beta 2 nicotinic acetylcholine receptor. ( 15901849 )
2005
32
Recent advances on autosomal dominant nocturnal frontal lobe epilepsy: &amp;quot;understanding the nicotinic acetylcholine receptor (nAChR)&amp;quot;. ( 15843070 )
2005
33
Evidence for a fourth locus for autosomal dominant nocturnal frontal lobe epilepsy. ( 15245761 )
2004
34
Autosomal dominant nocturnal frontal lobe epilepsy--a critical overview. ( 15316796 )
2004
35
A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation. ( 14623738 )
2003
36
Genetic basis of autosomal dominant nocturnal frontal lobe epilepsy. ( 12773798 )
2003
37
Calcium and Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE). ( 15346160 )
2003
38
Schizophrenia, psychotic illness and other psychiatric symptoms in families with autosomal dominant nocturnal frontal lobe epilepsy caused by different mutations. ( 12782965 )
2003
39
Acetazolamide and autosomal dominant nocturnal frontal lobe epilepsy. ( 12823586 )
2003
40
Evidence for S284L mutation of the CHRNA4 in a white family with autosomal dominant nocturnal frontal lobe epilepsy. ( 12887446 )
2003
41
Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy. ( 12681012 )
2003
42
Molecular modelling of the interactions of carbamazepine and a nicotinic receptor involved in the autosomal dominant nocturnal frontal lobe epilepsy. ( 12110613 )
2002
43
Autosomal dominant nocturnal frontal lobe epilepsy. ( 11968471 )
2002
44
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
45
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
46
Neuronal nicotinic acetylcholine receptors and autosomal dominant nocturnal frontal lobe epilepsy: a critical review. ( 11512019 )
2001
47
CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. ( 11104662 )
2001
48
Autosomal dominant nocturnal frontal lobe epilepsy. ( 10961640 )
2000
49
Electroclinical picture of autosomal dominant nocturnal frontal lobe epilepsy in a Japanese family. ( 10643924 )
2000
50
The macrostructure and microstructure of sleep in patients with autosomal dominant nocturnal frontal lobe epilepsy. ( 10709813 )
2000

Variations for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

ClinVar genetic disease variations for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy:

6
(show top 50) (show all 331)
# Gene Variation Type Significance SNP ID Assembly Location
1 CRH NM_000756.3(CRH): c.-669C> A single nucleotide variant Pathogenic rs12721510 GRCh37 Chromosome 8, 67091182: 67091182
2 CRH NM_000756.3(CRH): c.-669C> A single nucleotide variant Pathogenic rs12721510 GRCh38 Chromosome 8, 66178947: 66178947
3 CRH NM_000756.3(CRH): c.-365G> C single nucleotide variant Pathogenic rs72556399 GRCh37 Chromosome 8, 67090878: 67090878
4 CRH NM_000756.3(CRH): c.-365G> C single nucleotide variant Pathogenic rs72556399 GRCh38 Chromosome 8, 66178643: 66178643
5 CHRNB2 NM_000748.2(CHRNB2): c.210+9A> G single nucleotide variant Benign rs3926124 GRCh37 Chromosome 1, 154542092: 154542092
6 CHRNB2 NM_000748.2(CHRNB2): c.210+9A> G single nucleotide variant Benign rs3926124 GRCh38 Chromosome 1, 154569616: 154569616
7 CHRNB2 NM_000748.2(CHRNB2): c.1191G> C (p.Gln397His) single nucleotide variant Conflicting interpretations of pathogenicity rs55685423 GRCh37 Chromosome 1, 154544490: 154544490
8 CHRNB2 NM_000748.2(CHRNB2): c.1191G> C (p.Gln397His) single nucleotide variant Conflicting interpretations of pathogenicity rs55685423 GRCh38 Chromosome 1, 154572014: 154572014
9 CHRNB2 NM_000748.2(CHRNB2): c.1432T> C (p.Phe478Leu) single nucleotide variant Benign/Likely benign rs79137415 GRCh37 Chromosome 1, 154548331: 154548331
10 CHRNB2 NM_000748.2(CHRNB2): c.1432T> C (p.Phe478Leu) single nucleotide variant Benign/Likely benign rs79137415 GRCh38 Chromosome 1, 154575855: 154575855
11 CRH NM_000756.3(CRH): c.89C> G (p.Pro30Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs748404250 GRCh37 Chromosome 8, 67089624: 67089624
12 CRH NM_000756.3(CRH): c.89C> G (p.Pro30Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs748404250 GRCh38 Chromosome 8, 66177389: 66177389
13 CHRNB2 NM_000748.2(CHRNB2): c.1378C> G (p.Arg460Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs202079239 GRCh37 Chromosome 1, 154548277: 154548277
14 CHRNB2 NM_000748.2(CHRNB2): c.1378C> G (p.Arg460Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs202079239 GRCh38 Chromosome 1, 154575801: 154575801
15 CHRNA2 NM_000742.3(CHRNA2): c.383G> A (p.Gly128Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs138682847 GRCh37 Chromosome 8, 27324812: 27324812
16 CHRNA2 NM_000742.3(CHRNA2): c.383G> A (p.Gly128Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs138682847 GRCh38 Chromosome 8, 27467295: 27467295
17 CHRNA4 NM_000744.6(CHRNA4): c.1454G> A (p.Arg485Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs755416498 GRCh37 Chromosome 20, 61981309: 61981309
18 CHRNA4 NM_000744.6(CHRNA4): c.1454G> A (p.Arg485Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs755416498 GRCh38 Chromosome 20, 63349957: 63349957
19 CHRNA4 NM_000744.6(CHRNA4): c.1441G> A (p.Gly481Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs111969225 GRCh37 Chromosome 20, 61981322: 61981322
20 CHRNA4 NM_000744.6(CHRNA4): c.1441G> A (p.Gly481Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs111969225 GRCh38 Chromosome 20, 63349970: 63349970
21 CHRNB2 NM_000748.2(CHRNB2): c.77C> T (p.Thr26Met) single nucleotide variant Likely benign rs71651692 GRCh37 Chromosome 1, 154541950: 154541950
22 CHRNB2 NM_000748.2(CHRNB2): c.77C> T (p.Thr26Met) single nucleotide variant Likely benign rs71651692 GRCh38 Chromosome 1, 154569474: 154569474
23 CHRNB2 NM_000748.2(CHRNB2): c.272G> A (p.Arg91His) single nucleotide variant Uncertain significance rs144508607 GRCh37 Chromosome 1, 154542750: 154542750
24 CHRNB2 NM_000748.2(CHRNB2): c.272G> A (p.Arg91His) single nucleotide variant Uncertain significance rs144508607 GRCh38 Chromosome 1, 154570274: 154570274
25 CHRNB2 NM_000748.2(CHRNB2): c.363_365delCAA (p.Asn122del) deletion Uncertain significance rs796052329 GRCh37 Chromosome 1, 154542841: 154542843
26 CHRNB2 NM_000748.2(CHRNB2): c.363_365delCAA (p.Asn122del) deletion Uncertain significance rs796052329 GRCh38 Chromosome 1, 154570365: 154570367
27 CHRNB2 NM_000748.2(CHRNB2): c.1234G> A (p.Gly412Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs774449832 GRCh38 Chromosome 1, 154572057: 154572057
28 CHRNB2 NM_000748.2(CHRNB2): c.1234G> A (p.Gly412Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs774449832 GRCh37 Chromosome 1, 154544533: 154544533
29 CHRNB2 NM_000748.2(CHRNB2): c.1235G> A (p.Gly412Asp) single nucleotide variant Benign/Likely benign rs112585933 GRCh37 Chromosome 1, 154544534: 154544534
30 CHRNB2 NM_000748.2(CHRNB2): c.1235G> A (p.Gly412Asp) single nucleotide variant Benign/Likely benign rs112585933 GRCh38 Chromosome 1, 154572058: 154572058
31 CHRNA2 NM_000742.3(CHRNA2): c.1500C> T (p.Ile500=) single nucleotide variant Benign/Likely benign rs143223159 GRCh37 Chromosome 8, 27319236: 27319236
32 CHRNA2 NM_000742.3(CHRNA2): c.1500C> T (p.Ile500=) single nucleotide variant Benign/Likely benign rs143223159 GRCh38 Chromosome 8, 27461719: 27461719
33 CHRNA2 NM_000742.3(CHRNA2): c.1464G> A (p.Ser488=) single nucleotide variant Uncertain significance rs796052305 GRCh37 Chromosome 8, 27320496: 27320496
34 CHRNA2 NM_000742.3(CHRNA2): c.1464G> A (p.Ser488=) single nucleotide variant Uncertain significance rs796052305 GRCh38 Chromosome 8, 27462979: 27462979
35 CHRNA2 NM_000742.3(CHRNA2): c.987C> T (p.Gly329=) single nucleotide variant Conflicting interpretations of pathogenicity rs147530139 GRCh37 Chromosome 8, 27320973: 27320973
36 CHRNA2 NM_000742.3(CHRNA2): c.987C> T (p.Gly329=) single nucleotide variant Conflicting interpretations of pathogenicity rs147530139 GRCh38 Chromosome 8, 27463456: 27463456
37 CHRNA2 NM_000742.3(CHRNA2): c.745G> A (p.Ala249Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs77710085 GRCh37 Chromosome 8, 27321215: 27321215
38 CHRNA2 NM_000742.3(CHRNA2): c.745G> A (p.Ala249Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs77710085 GRCh38 Chromosome 8, 27463698: 27463698
39 CHRNA2 NM_000742.3(CHRNA2): c.731A> G (p.Lys244Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs146751925 GRCh37 Chromosome 8, 27321229: 27321229
40 CHRNA2 NM_000742.3(CHRNA2): c.731A> G (p.Lys244Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs146751925 GRCh38 Chromosome 8, 27463712: 27463712
41 CHRNA2 NM_000742.3(CHRNA2): c.710C> A (p.Thr237Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs140350483 GRCh37 Chromosome 8, 27321250: 27321250
42 CHRNA2 NM_000742.3(CHRNA2): c.710C> A (p.Thr237Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs140350483 GRCh38 Chromosome 8, 27463733: 27463733
43 CHRNA2 NM_000742.3(CHRNA2): c.447_449delCAA (p.Asn150del) deletion Uncertain significance rs758217117 GRCh37 Chromosome 8, 27324746: 27324748
44 CHRNA2 NM_000742.3(CHRNA2): c.447_449delCAA (p.Asn150del) deletion Uncertain significance rs758217117 GRCh38 Chromosome 8, 27467229: 27467231
45 CHRNA2 NM_000742.3(CHRNA2): c.347G> T (p.Ser116Ile) single nucleotide variant Likely benign rs541282922 GRCh37 Chromosome 8, 27324848: 27324848
46 CHRNA2 NM_000742.3(CHRNA2): c.347G> T (p.Ser116Ile) single nucleotide variant Likely benign rs541282922 GRCh38 Chromosome 8, 27467331: 27467331
47 CHRNA2 NM_000742.3(CHRNA2): c.182G> A (p.Arg61Gln) single nucleotide variant Uncertain significance rs568479156 GRCh37 Chromosome 8, 27327390: 27327390
48 CHRNA2 NM_000742.3(CHRNA2): c.182G> A (p.Arg61Gln) single nucleotide variant Uncertain significance rs568479156 GRCh38 Chromosome 8, 27469873: 27469873
49 CHRNA2 NM_000742.3(CHRNA2): c.173C> T (p.Thr58Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs151268950 GRCh37 Chromosome 8, 27327399: 27327399
50 CHRNA2 NM_000742.3(CHRNA2): c.173C> T (p.Thr58Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs151268950 GRCh38 Chromosome 8, 27469882: 27469882

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

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 20072 1 15300000 153300000 Copy number CHRNB2 Autosomal dominant nocturnal frontal lobe epilepsy
2 155269 20 54400000 62435964 Copy number CHRNA4 Autosomal dominant nocturnal frontal lobe epilepsy

Expression for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Search GEO for disease gene expression data for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy.

Pathways for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Pathways related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy according to KEGG:

37
# Name Kegg Source Accession
1 Neuroactive ligand-receptor interaction hsa04080
2 Cholinergic synapse hsa04725

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2 CRH
2
Show member pathways
12.79 CHRNA2 CHRNA3 CHRNA4 CHRNA5
3
Show member pathways
12.77 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2
4
Show member pathways
12.41 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2
5
Show member pathways
11.27 CHRNA3 CHRNA4 CHRNA5 CHRNB2
6 10.97 CHRNA4 CHRNB2
7
Show member pathways
10.95 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2

GO Terms for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Cellular components related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.8 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2
2 cell junction GO:0030054 9.72 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2
3 synapse GO:0045202 9.65 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2
4 neuronal cell body GO:0043025 9.61 CHRNA3 CHRNA4 CRH
5 neuron projection GO:0043005 9.55 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2
6 plasma membrane raft GO:0044853 9.37 CHRNA3 CHRNB2
7 postsynaptic membrane GO:0045211 9.35 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2
8 acetylcholine-gated channel complex GO:0005892 9.02 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.97 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2 KCNT1
2 ion transmembrane transport GO:0034220 9.91 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2
3 chemical synaptic transmission GO:0007268 9.91 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2 CRH
4 excitatory postsynaptic potential GO:0060079 9.8 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2
5 nervous system process GO:0050877 9.77 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2
6 regulation of postsynaptic membrane potential GO:0060078 9.76 CHRNA2 CHRNA4 CHRNA5 CHRNB2
7 locomotory behavior GO:0007626 9.72 CHRNA3 CHRNA4 CHRNB2
8 response to nicotine GO:0035094 9.72 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2
9 acetylcholine receptor signaling pathway GO:0095500 9.65 CHRNA3 CHRNA4 CHRNB2
10 protein heterooligomerization GO:0051291 9.63 CHRNA2 CHRNB2
11 regulation of membrane potential GO:0042391 9.63 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2 KCNT1
12 sensory perception of pain GO:0019233 9.62 CHRNA4 CHRNB2
13 cognition GO:0050890 9.62 CHRNA4 CHRNB2
14 response to cocaine GO:0042220 9.61 CHRNB2 CRH
15 associative learning GO:0008306 9.61 CHRNB2 CRH
16 B cell activation GO:0042113 9.6 CHRNA4 CHRNB2
17 regulation of dendrite morphogenesis GO:0048814 9.59 CHRNA3 CHRNB2
18 membrane depolarization GO:0051899 9.58 CHRNA4 CHRNB2
19 regulation of dopamine secretion GO:0014059 9.58 CHRNA4 CHRNB2
20 action potential GO:0001508 9.57 CHRNA4 CHRNB2
21 behavioral response to nicotine GO:0035095 9.56 CHRNA3 CHRNA4 CHRNA5 CHRNB2
22 synaptic transmission involved in micturition GO:0060084 9.54 CHRNA3 CHRNB2
23 response to acetylcholine GO:1905144 9.52 CHRNA3 CHRNB2
24 neuromuscular synaptic transmission GO:0007274 9.35 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2
25 synaptic transmission, cholinergic GO:0007271 9.02 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2
26 signal transduction GO:0007165 10.03 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2 CRH

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

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.77 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2
2 extracellular ligand-gated ion channel activity GO:0005230 9.72 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2
3 ligand-gated ion channel activity GO:0015276 9.65 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2
4 acetylcholine binding GO:0042166 9.55 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2
5 drug binding GO:0008144 9.4 CHRNA2 CHRNB2
6 acetylcholine-gated cation-selective channel activity GO:0022848 9.35 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2
7 acetylcholine receptor activity GO:0015464 9.02 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2

Sources for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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