ENFL
MCID: ATS011
MIFTS: 39

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ENFL)

Categories: Genetic diseases, Neuronal diseases, Rare 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 25 54 26 38 30 6 15 74
Adnfle 25 54 26
Epilepsy, Nocturnal Frontal Lobe, Type 1 74
Epilepsy, Nocturnal Frontal Lobe, 1 54
Enfl1 54
Enfl 12

Characteristics:

GeneReviews:

25
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 38 H00807

Summaries for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

NIH Rare Diseases : 54 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 CHRNA4 (Cholinergic Receptor Nicotinic Alpha 4 Subunit), and among its related pathways/superpathways are Neuroactive ligand-receptor interaction and Cholinergic synapse. Affiliated tissues include testes, and related phenotypes are behavior/neurological and nervous system

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.

Genetics Home Reference : 26 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.

GeneReviews: NBK1169

Related Diseases for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Diseases in the Autosomal Dominant Nocturnal Frontal Lobe Epilepsy family:

Epilepsy, Nocturnal Frontal Lobe, 1 Epilepsy, Nocturnal Frontal Lobe, 2
Epilepsy, Nocturnal Frontal Lobe, 3 Epilepsy, Nocturnal Frontal Lobe, 4
Epilepsy, Nocturnal Frontal Lobe, 5 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 4

Diseases related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant nocturnal frontal lobe epilepsy 2 34.5 CHRNA4 CHRNB2
2 epilepsy, nocturnal frontal lobe, 3 33.6 CHRNA4 CHRNB2
3 epilepsy, nocturnal frontal lobe, 1 33.6 CHRNA2 CHRNA4 CHRNB2 CRH
4 epilepsy 30.9 CHRNA2 CHRNA4 CHRNB2 DEPDC5 KCNT1
5 autosomal dominant nocturnal frontal lobe epilepsy 4 12.8
6 epilepsy, nocturnal frontal lobe, 5 12.1
7 epilepsy, nocturnal frontal lobe, 2 11.1
8 epilepsy, nocturnal frontal lobe, 4 11.1
9 schizophrenia 10.2
10 autism 10.2
11 alacrima, achalasia, and mental retardation syndrome 10.2
12 pervasive developmental disorder 10.2
13 febrile seizures 10.1 CHRNA4 CHRNB2
14 cutis laxa, autosomal dominant 1 10.0 CHRNA4 CHRNA5
15 drug dependence 9.9 CHRNA6 CRH
16 smoking as a quantitative trait locus 3 9.8 CHRNA3 CHRNA5
17 cocaine dependence 9.7 CHRNA3 CHRNA5
18 substance dependence 9.5 CHRNA3 CHRNA5
19 focal epilepsy 9.4 CHRNA2 CHRNA4 CHRNB2 DEPDC5 KCNT1
20 tobacco addiction 8.7 CHRNB2 CHRNA7 CHRNA6 CHRNA5 CHRNA4 CHRNA3

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.56 CHRNA3 CHRNA4 CHRNA5 CHRNA7 CHRNB2 CRH
2 nervous system MP:0003631 9.32 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNA6 CHRNA7

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 30

Anatomical Context for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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

42
Testes

Publications for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Articles related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy:

(show top 50) (show all 77)
# Title Authors Year
1
Revisiting autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) mutations in the nicotinic acetylcholine receptor reveal an increase in efficacy regardless of stochiometry. ( 30472464 )
2018
2
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
3
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
4
Mutational analysis of CHRNB2, CHRNA2 and CHRNA4 genes in Chinese population with autosomal dominant nocturnal frontal lobe epilepsy. ( 26309560 )
2015
5
The role of nicotinic acetylcholine receptors in autosomal dominant nocturnal frontal lobe epilepsy. ( 25717303 )
2015
6
Spontaneous epileptic seizures in transgenic rats harboring a human ADNFLE missense mutation in the β2-subunit of the nicotinic acetylcholine receptor. ( 26091610 )
2015
7
DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy. ( 24814846 )
2014
8
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
9
Autism in siblings with autosomal dominant nocturnal frontal lobe epilepsy. ( 22883468 )
2013
10
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
11
A novel prophylactic effect of furosemide treatment on autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). ( 24045013 )
2013
12
Hippocampal sclerosis worsens autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) phenotype related to CHRNB2 mutation. ( 22897520 )
2013
13
[Clinical features and mutation analysis of CHRNA4 gene for families and sporadic cases affected with autosomal dominant nocturnal frontal lobe epilepsy]. ( 24327142 )
2013
14
KCNT1 mutations in ADNFLE and MMPSI: a new driver in the etiology and pathophysiology of early-onset epileptic syndromes. ( 23278465 )
2013
15
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. ( 23086396 )
2012
16
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
17
Altered activity-rest patterns in mice with a human autosomal-dominant nocturnal frontal lobe epilepsy mutation in the I^2 nicotinic receptor. ( 20603624 )
2011
18
[Mutational analysis of CHRNB2 and CHRNA2 genes in southern Chinese population with autosomal dominant nocturnal frontal lobe epilepsy]. ( 21287502 )
2011
19
Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation. ( 21753767 )
2011
20
Neuropsychological function in patients with a single gene mutation associated with autosomal dominant nocturnal frontal lobe epilepsy. ( 20189461 )
2010
21
Nicotine normalizes intracellular subunit stoichiometry of nicotinic receptors carrying mutations linked to autosomal dominant nocturnal frontal lobe epilepsy. ( 19237585 )
2009
22
Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability. ( 18479385 )
2008
23
K-complex-induced seizures in autosomal dominant nocturnal frontal lobe epilepsy. ( 18762450 )
2008
24
The multifaceted role of inhibition in epilepsy: seizure-genesis through excessive GABAergic inhibition in autosomal dominant nocturnal frontal lobe epilepsy. ( 18317273 )
2008
25
Autosomal dominant nocturnal frontal lobe epilepsy and mild memory impairment associated with CHRNB2 mutation I312M in the neuronal nicotinic acetylcholine receptor. ( 18534914 )
2008
26
Reduced striatal D1 receptor binding in autosomal dominant nocturnal frontal lobe epilepsy. ( 18685138 )
2008
27
Autosomal dominant nocturnal frontal lobe epilepsy with a mutation in the CHRNB2 gene. ( 17900292 )
2008
28
Nicotine-induced dystonic arousal complex in a mouse line harboring a human autosomal-dominant nocturnal frontal lobe epilepsy mutation. ( 17881519 )
2007
29
A major role of the nicotinic acetylcholine receptor gene CHRNA2 in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is unlikely. ( 17602836 )
2007
30
Is too much inhibition to blame in autosomal dominant nocturnal frontal lobe epilepsy? ( 17694173 )
2007
31
Tobacco habits modulate autosomal dominant nocturnal frontal lobe epilepsy. ( 16931165 )
2006
32
Seizures and enhanced cortical GABAergic inhibition in two mouse models of human autosomal dominant nocturnal frontal lobe epilepsy. ( 17146052 )
2006
33
Alteration of the in vivo nicotinic receptor density in ADNFLE patients: a PET study. ( 16815873 )
2006
34
Mutations linked to autosomal dominant nocturnal frontal lobe epilepsy affect allosteric Ca2+ activation of the alpha 4 beta 2 nicotinic acetylcholine receptor. ( 15901849 )
2005
35
Recent advances on autosomal dominant nocturnal frontal lobe epilepsy: &amp;quot;understanding the nicotinic acetylcholine receptor (nAChR)&amp;quot;. ( 15843070 )
2005
36
Two new putative susceptibility loci for ADNFLE. ( 16182932 )
2005
37
Evidence for a fourth locus for autosomal dominant nocturnal frontal lobe epilepsy. ( 15245761 )
2004
38
Autosomal dominant nocturnal frontal lobe epilepsy--a critical overview. ( 15316796 )
2004
39
A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation. ( 14623738 )
2003
40
Genetic basis of autosomal dominant nocturnal frontal lobe epilepsy. ( 12773798 )
2003
41
Calcium and Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE). ( 15346160 )
2003
42
Schizophrenia, psychotic illness and other psychiatric symptoms in families with autosomal dominant nocturnal frontal lobe epilepsy caused by different mutations. ( 12782965 )
2003
43
Acetazolamide and autosomal dominant nocturnal frontal lobe epilepsy. ( 12823586 )
2003
44
Evidence for S284L mutation of the CHRNA4 in a white family with autosomal dominant nocturnal frontal lobe epilepsy. ( 12887446 )
2003
45
Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy. ( 12681012 )
2003
46
Five ADNFLE mutations reduce the Ca2+ dependence of the mammalian alpha4beta2 acetylcholine response. ( 12754307 )
2003
47
Nicotine as an antiepileptic agent in ADNFLE: an N-of-one study. ( 12919397 )
2003
48
Molecular modelling of the interactions of carbamazepine and a nicotinic receptor involved in the autosomal dominant nocturnal frontal lobe epilepsy. ( 12110613 )
2002
49
Autosomal dominant nocturnal frontal lobe epilepsy. ( 11968471 )
2002
50
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

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 541)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHRNB2 NM_000748.2(CHRNB2): c.210+9A> G single nucleotide variant Benign rs3926124 GRCh37 Chromosome 1, 154542092: 154542092
2 CHRNB2 NM_000748.2(CHRNB2): c.210+9A> G single nucleotide variant Benign rs3926124 GRCh38 Chromosome 1, 154569616: 154569616
3 CHRNB2 NM_000748.2(CHRNB2): c.1191G> C (p.Gln397His) single nucleotide variant Conflicting interpretations of pathogenicity rs55685423 GRCh37 Chromosome 1, 154544490: 154544490
4 CHRNB2 NM_000748.2(CHRNB2): c.1191G> C (p.Gln397His) single nucleotide variant Conflicting interpretations of pathogenicity rs55685423 GRCh38 Chromosome 1, 154572014: 154572014
5 CHRNB2 NM_000748.2(CHRNB2): c.1432T> C (p.Phe478Leu) single nucleotide variant Benign/Likely benign rs79137415 GRCh37 Chromosome 1, 154548331: 154548331
6 CHRNB2 NM_000748.2(CHRNB2): c.1432T> C (p.Phe478Leu) single nucleotide variant Benign/Likely benign rs79137415 GRCh38 Chromosome 1, 154575855: 154575855
7 CRH NM_000756.3(CRH): c.89C> G (p.Pro30Arg) single nucleotide variant Likely benign rs748404250 GRCh37 Chromosome 8, 67089624: 67089624
8 CRH NM_000756.3(CRH): c.89C> G (p.Pro30Arg) single nucleotide variant Likely benign rs748404250 GRCh38 Chromosome 8, 66177389: 66177389
9 CHRNB2 NM_000748.2(CHRNB2): c.1378C> G (p.Arg460Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs202079239 GRCh37 Chromosome 1, 154548277: 154548277
10 CHRNB2 NM_000748.2(CHRNB2): c.1378C> G (p.Arg460Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs202079239 GRCh38 Chromosome 1, 154575801: 154575801
11 CHRNA2 NM_000742.3(CHRNA2): c.383G> A (p.Gly128Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs138682847 GRCh37 Chromosome 8, 27324812: 27324812
12 CHRNA2 NM_000742.3(CHRNA2): c.383G> A (p.Gly128Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs138682847 GRCh38 Chromosome 8, 27467295: 27467295
13 CHRNA4 NM_000744.6(CHRNA4): c.1454G> A (p.Arg485Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs755416498 GRCh37 Chromosome 20, 61981309: 61981309
14 CHRNA4 NM_000744.6(CHRNA4): c.1454G> A (p.Arg485Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs755416498 GRCh38 Chromosome 20, 63349957: 63349957
15 CHRNA4 NM_000744.6(CHRNA4): c.1441G> A (p.Gly481Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs111969225 GRCh37 Chromosome 20, 61981322: 61981322
16 CHRNA4 NM_000744.6(CHRNA4): c.1441G> A (p.Gly481Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs111969225 GRCh38 Chromosome 20, 63349970: 63349970
17 CHRNB2 NM_000748.2(CHRNB2): c.77C> T (p.Thr26Met) single nucleotide variant Conflicting interpretations of pathogenicity rs71651692 GRCh37 Chromosome 1, 154541950: 154541950
18 CHRNB2 NM_000748.2(CHRNB2): c.77C> T (p.Thr26Met) single nucleotide variant Conflicting interpretations of pathogenicity rs71651692 GRCh38 Chromosome 1, 154569474: 154569474
19 CHRNB2 NM_000748.2(CHRNB2): c.272G> A (p.Arg91His) single nucleotide variant Uncertain significance rs144508607 GRCh37 Chromosome 1, 154542750: 154542750
20 CHRNB2 NM_000748.2(CHRNB2): c.272G> A (p.Arg91His) single nucleotide variant Uncertain significance rs144508607 GRCh38 Chromosome 1, 154570274: 154570274
21 CHRNB2 NM_000748.2(CHRNB2): c.363_365delCAA (p.Asn122del) deletion Uncertain significance rs796052329 GRCh37 Chromosome 1, 154542841: 154542843
22 CHRNB2 NM_000748.2(CHRNB2): c.363_365delCAA (p.Asn122del) deletion Uncertain significance rs796052329 GRCh38 Chromosome 1, 154570365: 154570367
23 CHRNB2 NM_000748.2(CHRNB2): c.620C> G (p.Ala207Gly) single nucleotide variant Uncertain significance rs201622476 GRCh38 Chromosome 1, 154571443: 154571443
24 CHRNB2 NM_000748.2(CHRNB2): c.620C> G (p.Ala207Gly) single nucleotide variant Uncertain significance rs201622476 GRCh37 Chromosome 1, 154543919: 154543919
25 CHRNB2 NM_000748.2(CHRNB2): c.1234G> A (p.Gly412Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs774449832 GRCh38 Chromosome 1, 154572057: 154572057
26 CHRNB2 NM_000748.2(CHRNB2): c.1234G> A (p.Gly412Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs774449832 GRCh37 Chromosome 1, 154544533: 154544533
27 CHRNB2 NM_000748.2(CHRNB2): c.1235G> A (p.Gly412Asp) single nucleotide variant Benign/Likely benign rs112585933 GRCh37 Chromosome 1, 154544534: 154544534
28 CHRNB2 NM_000748.2(CHRNB2): c.1235G> A (p.Gly412Asp) single nucleotide variant Benign/Likely benign rs112585933 GRCh38 Chromosome 1, 154572058: 154572058
29 CHRNA2 NM_000742.3(CHRNA2): c.1568C> T (p.Pro523Leu) single nucleotide variant Uncertain significance rs145238683 GRCh37 Chromosome 8, 27319168: 27319168
30 CHRNA2 NM_000742.3(CHRNA2): c.1568C> T (p.Pro523Leu) single nucleotide variant Uncertain significance rs145238683 GRCh38 Chromosome 8, 27461651: 27461651
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.1073G> T (p.Ser358Ile) single nucleotide variant Uncertain significance rs74341575 GRCh37 Chromosome 8, 27320887: 27320887
36 CHRNA2 NM_000742.3(CHRNA2): c.1073G> T (p.Ser358Ile) single nucleotide variant Uncertain significance rs74341575 GRCh38 Chromosome 8, 27463370: 27463370
37 CHRNA2 NM_000742.3(CHRNA2): c.987C> T (p.Gly329=) single nucleotide variant Conflicting interpretations of pathogenicity rs147530139 GRCh37 Chromosome 8, 27320973: 27320973
38 CHRNA2 NM_000742.3(CHRNA2): c.987C> T (p.Gly329=) single nucleotide variant Conflicting interpretations of pathogenicity rs147530139 GRCh38 Chromosome 8, 27463456: 27463456
39 CHRNA2 NM_000742.3(CHRNA2): c.745G> A (p.Ala249Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs77710085 GRCh37 Chromosome 8, 27321215: 27321215
40 CHRNA2 NM_000742.3(CHRNA2): c.745G> A (p.Ala249Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs77710085 GRCh38 Chromosome 8, 27463698: 27463698
41 CHRNA2 NM_000742.3(CHRNA2): c.731A> G (p.Lys244Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs146751925 GRCh37 Chromosome 8, 27321229: 27321229
42 CHRNA2 NM_000742.3(CHRNA2): c.731A> G (p.Lys244Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs146751925 GRCh38 Chromosome 8, 27463712: 27463712
43 CHRNA2 NM_000742.3(CHRNA2): c.710C> A (p.Thr237Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs140350483 GRCh37 Chromosome 8, 27321250: 27321250
44 CHRNA2 NM_000742.3(CHRNA2): c.710C> A (p.Thr237Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs140350483 GRCh38 Chromosome 8, 27463733: 27463733
45 CHRNA2 NM_000742.3(CHRNA2): c.447_449delCAA (p.Asn150del) deletion Uncertain significance rs758217117 GRCh37 Chromosome 8, 27324746: 27324748
46 CHRNA2 NM_000742.3(CHRNA2): c.447_449delCAA (p.Asn150del) deletion Uncertain significance rs758217117 GRCh38 Chromosome 8, 27467229: 27467231
47 CHRNA2 NM_000742.3(CHRNA2): c.347G> T (p.Ser116Ile) single nucleotide variant Likely benign rs541282922 GRCh37 Chromosome 8, 27324848: 27324848
48 CHRNA2 NM_000742.3(CHRNA2): c.347G> T (p.Ser116Ile) single nucleotide variant Likely benign rs541282922 GRCh38 Chromosome 8, 27467331: 27467331
49 CHRNA2 NM_000742.3(CHRNA2): c.215G> C (p.Arg72Pro) single nucleotide variant Uncertain significance rs201922955 GRCh37 Chromosome 8, 27327357: 27327357
50 CHRNA2 NM_000742.3(CHRNA2): c.215G> C (p.Arg72Pro) single nucleotide variant Uncertain significance rs201922955 GRCh38 Chromosome 8, 27469840: 27469840

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:

38
# 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
13.14 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNA6 CHRNA7
2
Show member pathways
12.93 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNA6 CHRNA7
3
Show member pathways
12.92 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNA6 CHRNA7
4
Show member pathways
12.67 CHRNA3 CHRNA4 CHRNA6 CHRNA7 CHRNB2
5
Show member pathways
12.55 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNA6 CHRNA7
6 11.82 CHRNA4 CHRNA7 CHRNB2
7
Show member pathways
11.03 CHRNA3 CHRNA4 CHRNA5 CHRNA6 CHRNB2
8 10.86 CHRNA4 CHRNA6 CHRNA7 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:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.98 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNA6 CHRNA7
2 cell junction GO:0030054 9.91 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNA6 CHRNA7
3 synapse GO:0045202 9.87 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNA6 CHRNA7
4 neuron projection GO:0043005 9.8 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNA6 CHRNA7
5 integral component of presynaptic membrane GO:0099056 9.63 CHRNA4 CHRNA6 CHRNB2
6 plasma membrane raft GO:0044853 9.58 CHRNA3 CHRNA7 CHRNB2
7 postsynaptic membrane GO:0045211 9.5 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNA6 CHRNA7
8 dopaminergic synapse GO:0098691 9.46 CHRNA4 CHRNA5 CHRNA6 CHRNB2
9 acetylcholine-gated channel complex GO:0005892 9.17 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNA6 CHRNA7
10 membrane GO:0016020 10.16 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNA6 CHRNA7
11 integral component of membrane GO:0016021 10.1 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNA6 CHRNA7
12 plasma membrane GO:0005886 10.08 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNA6 CHRNA7

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.97 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNA6 CHRNA7
2 regulation of postsynaptic membrane potential GO:0060078 9.88 CHRNA2 CHRNA4 CHRNA5 CHRNA6 CHRNA7 CHRNB2
3 regulation of synaptic vesicle exocytosis GO:2000300 9.84 CHRNA4 CHRNA5 CHRNA6 CHRNB2
4 neuromuscular synaptic transmission GO:0007274 9.83 CHRNA3 CHRNA4 CHRNA5 CHRNA6 CHRNB2
5 acetylcholine receptor signaling pathway GO:0095500 9.8 CHRNA3 CHRNA4 CHRNA7 CHRNB2
6 response to nicotine GO:0035094 9.8 CHRNA3 CHRNA4 CHRNA5 CHRNA6 CHRNA7 CHRNB2
7 excitatory postsynaptic potential GO:0060079 9.8 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNA6 CHRNA7
8 response to hypoxia GO:0001666 9.79 CHRNA4 CHRNA7 CHRNB2
9 calcium ion transport GO:0006816 9.77 CHRNA4 CHRNA7 CHRNB2
10 locomotory behavior GO:0007626 9.77 CHRNA3 CHRNA4 CHRNB2
11 cognition GO:0050890 9.76 CHRNA4 CHRNA7 CHRNB2
12 behavioral response to nicotine GO:0035095 9.76 CHRNA3 CHRNA4 CHRNA5 CHRNB2
13 regulation of dopamine secretion GO:0014059 9.74 CHRNA4 CHRNA6 CHRNB2
14 membrane depolarization GO:0051899 9.73 CHRNA4 CHRNA6 CHRNB2
15 response to acetylcholine GO:1905144 9.7 CHRNA3 CHRNA7 CHRNB2
16 protein heterooligomerization GO:0051291 9.65 CHRNA2 CHRNB2
17 learning or memory GO:0007611 9.64 CHRNA7 CRH
18 sensory perception of pain GO:0019233 9.64 CHRNA4 CHRNB2
19 response to cocaine GO:0042220 9.63 CHRNB2 CRH
20 associative learning GO:0008306 9.63 CHRNB2 CRH
21 synaptic transmission, cholinergic GO:0007271 9.63 CHRNA3 CHRNA4 CHRNA5 CHRNA6 CHRNA7 CHRNB2
22 B cell activation GO:0042113 9.62 CHRNA4 CHRNB2
23 regulation of dendrite morphogenesis GO:0048814 9.61 CHRNA3 CHRNB2
24 action potential GO:0001508 9.61 CHRNA4 CHRNB2
25 synaptic transmission involved in micturition GO:0060084 9.58 CHRNA3 CHRNB2
26 regulation of membrane potential GO:0042391 9.56 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNA6 CHRNA7
27 nervous system process GO:0050877 9.17 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNA6 CHRNA7
28 signal transduction GO:0007165 10.15 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNA6 CHRNA7
29 ion transport GO:0006811 10.11 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNA6 CHRNA7
30 ion transmembrane transport GO:0034220 10.02 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNA6 CHRNA7

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 9.91 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNA6 CHRNA7
2 acetylcholine binding GO:0042166 9.87 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNA6 CHRNA7
3 acetylcholine receptor activity GO:0015464 9.8 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNA6 CHRNA7
4 acetylcholine-gated cation-selective channel activity GO:0022848 9.7 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNA6 CHRNA7
5 transmembrane signaling receptor activity GO:0004888 9.58 CHRNA4 CHRNA7 CHRNB2
6 extracellular ligand-gated ion channel activity GO:0005230 9.5 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNA6 CHRNA7
7 drug binding GO:0008144 9.43 CHRNA2 CHRNB2
8 ligand-gated ion channel activity GO:0015276 8.92 CHRNA3 CHRNA4 CHRNA5 CHRNB2

Sources for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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