ENFL1
MCID: EPL073
MIFTS: 48

Epilepsy, Nocturnal Frontal Lobe, 1 (ENFL1)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Nocturnal Frontal Lobe, 1

MalaCards integrated aliases for Epilepsy, Nocturnal Frontal Lobe, 1:

Name: Epilepsy, Nocturnal Frontal Lobe, 1 58 76 13
Epilepsy, Nocturnal Frontal Lobe, Type 1 30 6 74
Enfl1 58 12 76
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 1 12 15
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 76 74
Epilepsy, Frontal Lobe, Nocturnal, Type 1 41
Nocturnal Frontal Lobe Epilepsy 1 12
Epilepsy, Frontal Lobe 45
Adnfle 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in childhood
incomplete penetrance
may be misdiagnosed as nightmares, night terrors, parasomnias, or psychiatric disorders


HPO:

33
epilepsy, nocturnal frontal lobe, 1:
Onset and clinical course incomplete penetrance childhood onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060682
OMIM 58 600513
MeSH 45 D017034
MedGen 43 C1838049

Summaries for Epilepsy, Nocturnal Frontal Lobe, 1

OMIM : 58 Autosomal dominant nocturnal frontal lobe epilepsy (ENFL, ADNFLE) is a partial epilepsy with frontal lobe seizure semiology. It is characterized by childhood onset of frequent violent and brief motor seizures occurring at night. The disorder may be misdiagnosed as night terrors, nightmares, hysteria, or paroxysmal nocturnal dystonia. The condition usually persists through adult life (9,8:Scheffer et al., 1994, 1995). The disorder is clinically distinctive and relatively homogeneous, although seizure severity and specific frontal lobe seizure manifestations vary within families (Hayman et al., 1997). (600513)

MalaCards based summary : Epilepsy, Nocturnal Frontal Lobe, 1, also known as epilepsy, nocturnal frontal lobe, type 1, is related to autosomal dominant nocturnal frontal lobe epilepsy 2 and epilepsy, nocturnal frontal lobe, 3. An important gene associated with Epilepsy, Nocturnal Frontal Lobe, 1 is CHRNA4 (Cholinergic Receptor Nicotinic Alpha 4 Subunit), and among its related pathways/superpathways are Circadian entrainment and Transmission across Chemical Synapses. Affiliated tissues include temporal lobe and brain, and related phenotypes are intellectual disability and focal-onset seizure

Disease Ontology : 12 An autosomal dominant nocturnal frontal lobe epilepsy that has material basis in heterozygous mutation in the CHRNA4 gene on chromosome 20q13.

UniProtKB/Swiss-Prot : 76 Epilepsy, nocturnal frontal lobe, 1: An autosomal dominant focal epilepsy characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements.

Wikipedia : 77 Frontal lobe epilepsy, or FLE, is a neurological disorder that is characterized by brief, recurring... more...

Related Diseases for Epilepsy, Nocturnal Frontal Lobe, 1

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 Epilepsy, Nocturnal Frontal Lobe, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant nocturnal frontal lobe epilepsy 2 34.0 BTNL2 CHRNA4 CHRNB2
2 epilepsy, nocturnal frontal lobe, 3 34.0 CHRNA4 CHRNB2
3 autosomal dominant nocturnal frontal lobe epilepsy 32.1 CHRNA2 CHRNA4 CHRNB2 CRH
4 epilepsy 30.0 CHRNA2 CHRNA4 CHRNB2 GABRG2 KCNQ2 KCNQ3
5 childhood absence epilepsy 29.9 CHRNA4 GABRG2 SCN1B
6 early myoclonic encephalopathy 29.6 GABRG2 SCN1A SCN1B
7 benign epilepsy with centrotemporal spikes 29.4 GABRG2 KCNQ2 KCNQ3 SCN1B
8 epilepsy, idiopathic generalized 10 29.2 CHRNA4 GABRG2 KCNA1 KCNQ3 SCN1A
9 autosomal dominant nocturnal frontal lobe epilepsy 4 12.8
10 epilepsy, familial focal, with variable foci 2 11.2
11 epilepsy, familial focal, with variable foci 3 11.2
12 epilepsy, familial focal, with variable foci 4 11.2
13 epilepsy, nocturnal frontal lobe, 2 11.1
14 epilepsy, nocturnal frontal lobe, 4 11.1
15 epilepsy, nocturnal frontal lobe, 5 11.1
16 schizophrenia 10.2
17 autism 10.2
18 epilepsy, familial focal, with variable foci 1 10.2
19 alacrima, achalasia, and mental retardation syndrome 10.2
20 pervasive developmental disorder 10.2
21 seizures, benign familial neonatal, 2 10.2 KCNQ2 KCNQ3
22 myoclonic epilepsy of infancy 10.1 GABRG2 SCN1A
23 tobacco addiction 10.1 CHRNA2 CHRNA4 CHRNB2
24 childhood electroclinical syndrome 10.0 GABRG2 KCNQ3
25 early onset absence epilepsy 10.0 CHRNB2 SCN1B
26 adolescence-adult electroclinical syndrome 10.0 GABRG2 SCN1A
27 temporal lobe epilepsy 10.0
28 generalized epilepsy with febrile seizures plus, type 1 10.0 SCN1A SCN1B
29 neonatal period electroclinical syndrome 10.0 KCNQ2 KCNQ3 SCN1A
30 benign neonatal seizures 9.9 KCNA1 KCNQ2 KCNQ3
31 benign familial neonatal epilepsy 9.9 CRH KCNQ2 KCNQ3
32 seizure disorder 9.9 KCNQ2 SCN1A
33 west syndrome 9.8 CRH KCNQ2 SCN1A
34 lennox-gastaut syndrome 9.8 GABRG2 SCN1A
35 early infantile epileptic encephalopathy 9.8 KCNA1 KCNQ2 SCN1A
36 long qt syndrome 9.7 KCNQ2 KCNQ3 SCN1B
37 benign familial infantile epilepsy 9.7 CHRNA2 KCNQ2 KCNQ3 SCN1B
38 infancy electroclinical syndrome 9.6 GABRG2 KCNQ2 SCN1A SCN1B
39 generalized epilepsy with febrile seizures plus 9.4 GABRG2 KCNQ2 KCNQ3 SCN1A SCN1B
40 epileptic encephalopathy, early infantile, 6 9.4 GABRG2 KCNQ2 KCNQ3 SCN1A SCN1B
41 focal epilepsy 9.3 CHRNA2 CHRNA4 CHRNB2 GABRG2 KCNA1 SCN1A
42 febrile seizures 9.3 CHRNA4 CHRNB2 GABRG2 KCNQ2 SCN1A SCN1B
43 seizures, benign familial infantile, 3 8.9 CHRNA4 GABRG2 KCNA1 KCNQ2 KCNQ3 SCN1A
44 epilepsy, idiopathic generalized 8.8 CHRNA4 CHRNB2 GABRG2 KCNA1 KCNQ2 KCNQ3

Graphical network of the top 20 diseases related to Epilepsy, Nocturnal Frontal Lobe, 1:



Diseases related to Epilepsy, Nocturnal Frontal Lobe, 1

Symptoms & Phenotypes for Epilepsy, Nocturnal Frontal Lobe, 1

Human phenotypes related to Epilepsy, Nocturnal Frontal Lobe, 1:

33
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 occasional (7.5%) HP:0001249
2 focal-onset seizure 33 HP:0007359

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
aura may occur
mental retardation (rare)
motor seizures, nocturnal, usually occur in clusters (up to 8 per night) during dozing or on awakening
arm flexion
tonic head extension
more

Clinical features from OMIM:

600513

MGI Mouse Phenotypes related to Epilepsy, Nocturnal Frontal Lobe, 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 CHRNA4 CHRNB2 CRH GABRG2 KCNA1 KCNQ2
2 growth/size/body region MP:0005378 9.86 CHRNB2 CRH GABRG2 KCNA1 KCNQ2 KCNQ3
3 mortality/aging MP:0010768 9.76 CHRNA4 CHRNB2 GABRG2 KCNA1 KCNQ2 KCNQ3
4 nervous system MP:0003631 9.65 CHRNA2 CHRNA4 CHRNB2 CRH GABRG2 KCNA1
5 normal MP:0002873 9.1 CHRNA2 CHRNB2 CRH GABRG2 SCN1A SCN1B

Drugs & Therapeutics for Epilepsy, Nocturnal Frontal Lobe, 1

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 Epilepsy, Nocturnal Frontal Lobe, 1

Cochrane evidence based reviews: epilepsy, frontal lobe

Genetic Tests for Epilepsy, Nocturnal Frontal Lobe, 1

Genetic tests related to Epilepsy, Nocturnal Frontal Lobe, 1:

# Genetic test Affiliating Genes
1 Epilepsy, Nocturnal Frontal Lobe, Type 1 30 CHRNA4

Anatomical Context for Epilepsy, Nocturnal Frontal Lobe, 1

MalaCards organs/tissues related to Epilepsy, Nocturnal Frontal Lobe, 1:

42
Temporal Lobe, Brain

Publications for Epilepsy, Nocturnal Frontal Lobe, 1

Articles related to Epilepsy, Nocturnal Frontal Lobe, 1:

(show top 50) (show all 74)
# 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>A (p.G155D) in Ca2+-binding protein 4 (CABP4) 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 α4β2, and Increases α5α4β2, Nicotinic Receptor Surface Expression. ( 27336596 )
2016
4
The role of nicotinic acetylcholine receptors in autosomal dominant nocturnal frontal lobe epilepsy. ( 25717303 )
2015
5
Mutational analysis of CHRNB2, CHRNA2 and CHRNA4 genes in Chinese population with autosomal dominant nocturnal frontal lobe epilepsy. ( 26309560 )
2015
6
DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy. ( 24814846 )
2014
7
Multi-electrode array study of neuronal cultures expressing nicotinic β2-V287L subunits, linked to autosomal dominant nocturnal frontal lobe epilepsy. An in vitro model of spontaneous epilepsy. ( 25104926 )
2014
8
Autism in siblings with autosomal dominant nocturnal frontal lobe epilepsy. ( 22883468 )
2013
9
Hippocampal sclerosis worsens autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) phenotype related to CHRNB2 mutation. ( 22897520 )
2013
10
A transcript coding for a partially duplicated form of α7 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
[Clinical features and mutation analysis of CHRNA4 gene for families and sporadic cases affected with autosomal dominant nocturnal frontal lobe epilepsy]. ( 24327142 )
2013
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
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. ( 23086396 )
2012
15
Altered activity-rest patterns in mice with a human autosomal-dominant nocturnal frontal lobe epilepsy mutation in the β2 nicotinic receptor. ( 20603624 )
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
[Mutational analysis of CHRNB2 and CHRNA2 genes in southern Chinese population with autosomal dominant nocturnal frontal lobe epilepsy]. ( 21287502 )
2011
18
Neuropsychological function in patients with a single gene mutation associated with autosomal dominant nocturnal frontal lobe epilepsy. ( 20189461 )
2010
19
Nicotine normalizes intracellular subunit stoichiometry of nicotinic receptors carrying mutations linked to autosomal dominant nocturnal frontal lobe epilepsy. ( 19237585 )
2009
20
Autosomal dominant nocturnal frontal lobe epilepsy with a mutation in the CHRNB2 gene. ( 17900292 )
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
Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability. ( 18479385 )
2008
23
Autosomal dominant nocturnal frontal lobe epilepsy and mild memory impairment associated with CHRNB2 mutation I312M in the neuronal nicotinic acetylcholine receptor. ( 18534914 )
2008
24
Reduced striatal D1 receptor binding in autosomal dominant nocturnal frontal lobe epilepsy. ( 18685138 )
2008
25
K-complex-induced seizures in autosomal dominant nocturnal frontal lobe epilepsy. ( 18762450 )
2008
26
A major role of the nicotinic acetylcholine receptor gene CHRNA2 in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is unlikely. ( 17602836 )
2007
27
Is too much inhibition to blame in autosomal dominant nocturnal frontal lobe epilepsy? ( 17694173 )
2007
28
Nicotine-induced dystonic arousal complex in a mouse line harboring a human autosomal-dominant nocturnal frontal lobe epilepsy mutation. ( 17881519 )
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
Recent advances on autosomal dominant nocturnal frontal lobe epilepsy: "understanding the nicotinic acetylcholine receptor (nAChR)". ( 15843070 )
2005
32
Mutations linked to autosomal dominant nocturnal frontal lobe epilepsy affect allosteric Ca2+ activation of the alpha 4 beta 2 nicotinic acetylcholine receptor. ( 15901849 )
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
Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy. ( 12681012 )
2003
36
Genetic basis of autosomal dominant nocturnal frontal lobe epilepsy. ( 12773798 )
2003
37
Schizophrenia, psychotic illness and other psychiatric symptoms in families with autosomal dominant nocturnal frontal lobe epilepsy caused by different mutations. ( 12782965 )
2003
38
Acetazolamide and autosomal dominant nocturnal frontal lobe epilepsy. ( 12823586 )
2003
39
Evidence for S284L mutation of the CHRNA4 in a white family with autosomal dominant nocturnal frontal lobe epilepsy. ( 12887446 )
2003
40
A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation. ( 14623738 )
2003
41
Calcium and Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE). ( 15346160 )
2003
42
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
43
Autosomal dominant nocturnal frontal lobe epilepsy. ( 11968471 )
2002
44
Molecular modelling of the interactions of carbamazepine and a nicotinic receptor involved in the autosomal dominant nocturnal frontal lobe epilepsy. ( 12110613 )
2002
45
CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. ( 11104662 )
2001
46
Neuronal nicotinic acetylcholine receptors and autosomal dominant nocturnal frontal lobe epilepsy: a critical review. ( 11512019 )
2001
47
Electroclinical picture of autosomal dominant nocturnal frontal lobe epilepsy in a Japanese family. ( 10643924 )
2000
48
The macrostructure and microstructure of sleep in patients with autosomal dominant nocturnal frontal lobe epilepsy. ( 10709813 )
2000
49
Autosomal dominant nocturnal frontal lobe epilepsy. ( 10961640 )
2000
50
A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1. ( 11094099 )
2000

Variations for Epilepsy, Nocturnal Frontal Lobe, 1

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Nocturnal Frontal Lobe, 1:

76
# Symbol AA change Variation ID SNP ID
1 CHRNA4 p.Ser280Phe VAR_000295 rs121909580
2 CHRNA4 p.Ser280Leu VAR_017531

ClinVar genetic disease variations for Epilepsy, Nocturnal Frontal Lobe, 1:

6 (show all 41)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHRNA4 NM_000744.6(CHRNA4): c.839C> T (p.Ser280Phe) single nucleotide variant Pathogenic rs121909580 GRCh37 Chromosome 20, 61981924: 61981924
2 CHRNA4 NM_000744.6(CHRNA4): c.839C> T (p.Ser280Phe) single nucleotide variant Pathogenic rs121909580 GRCh38 Chromosome 20, 63350572: 63350572
3 CHRNA4 CHRNA4, 3-BP INS, 776GCT insertion Pathogenic
4 CHRNA4 NM_000744.6(CHRNA4): c.851C> T (p.Ser284Leu) single nucleotide variant Pathogenic rs28931591 GRCh37 Chromosome 20, 61981912: 61981912
5 CHRNA4 NM_000744.6(CHRNA4): c.851C> T (p.Ser284Leu) single nucleotide variant Pathogenic rs28931591 GRCh38 Chromosome 20, 63350560: 63350560
6 CHRNA4 NM_000744.6(CHRNA4): c.1007G> A (p.Arg336His) single nucleotide variant Uncertain significance rs281865068 GRCh37 Chromosome 20, 61981756: 61981756
7 CHRNA4 NM_000744.6(CHRNA4): c.1007G> A (p.Arg336His) single nucleotide variant Uncertain significance rs281865068 GRCh38 Chromosome 20, 63350404: 63350404
8 CHRNA4 NM_000744.6(CHRNA4): c.870_872dup (p.Leu291_Ile292insLeu) duplication Pathogenic rs281865067 GRCh37 Chromosome 20, 61981891: 61981893
9 CHRNA4 NM_000744.6(CHRNA4): c.870_872dup (p.Leu291_Ile292insLeu) duplication Pathogenic rs281865067 GRCh38 Chromosome 20, 63350539: 63350541
10 CHRNA4 NM_000744.6(CHRNA4): c.878C> T (p.Thr293Ile) single nucleotide variant Pathogenic rs281865066 GRCh37 Chromosome 20, 61981885: 61981885
11 CHRNA4 NM_000744.6(CHRNA4): c.878C> T (p.Thr293Ile) single nucleotide variant Pathogenic rs281865066 GRCh38 Chromosome 20, 63350533: 63350533
12 CHRNA4 NM_000744.6(CHRNA4): c.1209G> T (p.Pro403=) single nucleotide variant Benign rs2229959 GRCh37 Chromosome 20, 61981554: 61981554
13 CHRNA4 NM_000744.6(CHRNA4): c.1209G> T (p.Pro403=) single nucleotide variant Benign rs2229959 GRCh38 Chromosome 20, 63350202: 63350202
14 CHRNA4 NM_000744.6(CHRNA4): c.1227T> C (p.Cys409=) single nucleotide variant Benign rs2229960 GRCh37 Chromosome 20, 61981536: 61981536
15 CHRNA4 NM_000744.6(CHRNA4): c.1227T> C (p.Cys409=) single nucleotide variant Benign rs2229960 GRCh38 Chromosome 20, 63350184: 63350184
16 CHRNA4 NM_000744.6(CHRNA4): c.1758+14A> G single nucleotide variant Benign rs3827020 GRCh37 Chromosome 20, 61980991: 61980991
17 CHRNA4 NM_000744.6(CHRNA4): c.1758+14A> G single nucleotide variant Benign rs3827020 GRCh38 Chromosome 20, 63349639: 63349639
18 CHRNA4 NM_000744.6(CHRNA4): c.51G> A (p.Leu17=) single nucleotide variant Benign rs79739740 GRCh37 Chromosome 20, 61992467: 61992467
19 CHRNA4 NM_000744.6(CHRNA4): c.51G> A (p.Leu17=) single nucleotide variant Benign rs79739740 GRCh38 Chromosome 20, 63361115: 63361115
20 CHRNA4 NM_000744.6(CHRNA4): c.1460G> A (p.Arg487Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs121912280 GRCh37 Chromosome 20, 61981303: 61981303
21 CHRNA4 NM_000744.6(CHRNA4): c.1460G> A (p.Arg487Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs121912280 GRCh38 Chromosome 20, 63349951: 63349951
22 CHRNA4 NM_000744.6(CHRNA4): c.799C> T (p.Leu267=) single nucleotide variant Uncertain significance rs121912256 GRCh37 Chromosome 20, 61981964: 61981964
23 CHRNA4 NM_000744.6(CHRNA4): c.799C> T (p.Leu267=) single nucleotide variant Uncertain significance rs121912256 GRCh38 Chromosome 20, 63350612: 63350612
24 CHRNA4 NM_000744.6(CHRNA4): c.189C> T (p.Leu63=) single nucleotide variant Benign rs2273506 GRCh37 Chromosome 20, 61990939: 61990939
25 CHRNA4 NM_000744.6(CHRNA4): c.189C> T (p.Leu63=) single nucleotide variant Benign rs2273506 GRCh38 Chromosome 20, 63359587: 63359587
26 CHRNA4 NM_000744.6(CHRNA4): c.1448G> A (p.Arg483Gln) single nucleotide variant Uncertain significance rs55855125 GRCh37 Chromosome 20, 61981315: 61981315
27 CHRNA4 NM_000744.6(CHRNA4): c.1448G> A (p.Arg483Gln) single nucleotide variant Uncertain significance rs55855125 GRCh38 Chromosome 20, 63349963: 63349963
28 CHRNA4 NM_000744.6(CHRNA4): c.1430C> T (p.Ala477Val) single nucleotide variant Uncertain significance rs200243948 GRCh38 Chromosome 20, 63349981: 63349981
29 CHRNA4 NM_000744.6(CHRNA4): c.1430C> T (p.Ala477Val) single nucleotide variant Uncertain significance rs200243948 GRCh37 Chromosome 20, 61981333: 61981333
30 CHRNA4 NM_000744.6(CHRNA4): c.1316A> C (p.Lys439Thr) single nucleotide variant Uncertain significance rs796052318 GRCh37 Chromosome 20, 61981447: 61981447
31 CHRNA4 NM_000744.6(CHRNA4): c.1316A> C (p.Lys439Thr) single nucleotide variant Uncertain significance rs796052318 GRCh38 Chromosome 20, 63350095: 63350095
32 CHRNA4 NM_000744.6(CHRNA4): c.358C> T (p.Arg120Trp) single nucleotide variant Uncertain significance rs200010568 GRCh37 Chromosome 20, 61987352: 61987352
33 CHRNA4 NM_000744.6(CHRNA4): c.358C> T (p.Arg120Trp) single nucleotide variant Uncertain significance rs200010568 GRCh38 Chromosome 20, 63356000: 63356000
34 CHRNA4 NM_000744.6(CHRNA4): c.274G> C (p.Glu92Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs146651027 GRCh37 Chromosome 20, 61987436: 61987436
35 CHRNA4 NM_000744.6(CHRNA4): c.274G> C (p.Glu92Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs146651027 GRCh38 Chromosome 20, 63356084: 63356084
36 CHRNA4 NM_000744.6(CHRNA4): c.1792A> G (p.Ile598Val) single nucleotide variant Uncertain significance rs1019612389 GRCh37 Chromosome 20, 61978182: 61978182
37 CHRNA4 NM_000744.6(CHRNA4): c.1792A> G (p.Ile598Val) single nucleotide variant Uncertain significance rs1019612389 GRCh38 Chromosome 20, 63346830: 63346830
38 CHRNA4 NM_000744.6(CHRNA4): c.1667C> G (p.Pro556Arg) single nucleotide variant Uncertain significance rs77345643 GRCh37 Chromosome 20, 61981096: 61981096
39 CHRNA4 NM_000744.6(CHRNA4): c.1667C> G (p.Pro556Arg) single nucleotide variant Uncertain significance rs77345643 GRCh38 Chromosome 20, 63349744: 63349744
40 CHRNA4 NM_000744.6(CHRNA4): c.138C> T (p.Ser46=) single nucleotide variant Conflicting interpretations of pathogenicity rs200705061 GRCh37 Chromosome 20, 61990990: 61990990
41 CHRNA4 NM_000744.6(CHRNA4): c.138C> T (p.Ser46=) single nucleotide variant Conflicting interpretations of pathogenicity rs200705061 GRCh38 Chromosome 20, 63359638: 63359638

Expression for Epilepsy, Nocturnal Frontal Lobe, 1

Search GEO for disease gene expression data for Epilepsy, Nocturnal Frontal Lobe, 1.

Pathways for Epilepsy, Nocturnal Frontal Lobe, 1

GO Terms for Epilepsy, Nocturnal Frontal Lobe, 1

Cellular components related to Epilepsy, Nocturnal Frontal Lobe, 1 according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.91 CHRNA2 CHRNA4 CHRNB2 GABRG2 KCNA1
2 neuron projection GO:0043005 9.86 CHRNA2 CHRNA4 CHRNB2 GABRG2
3 neuronal cell body GO:0043025 9.85 CHRNA4 CRH KCNA1 SCN1A
4 synapse GO:0045202 9.83 CHRNA2 CHRNA4 CHRNB2 GABRG2 KCNA1
5 integral component of plasma membrane GO:0005887 9.8 CHRNA2 CHRNA4 CHRNB2 GABRG2 KCNA1 KCNQ2
6 postsynaptic membrane GO:0045211 9.76 CHRNA2 CHRNA4 CHRNB2 GABRG2
7 voltage-gated potassium channel complex GO:0008076 9.67 KCNA1 KCNQ2 KCNQ3
8 intercalated disc GO:0014704 9.58 SCN1A SCN1B
9 T-tubule GO:0030315 9.58 SCN1A SCN1B
10 integral component of presynaptic membrane GO:0099056 9.58 CHRNA4 CHRNB2 KCNA1
11 voltage-gated sodium channel complex GO:0001518 9.54 SCN1A SCN1B
12 dopaminergic synapse GO:0098691 9.52 CHRNA4 CHRNB2
13 sodium channel complex GO:0034706 9.48 SCN1A SCN1B
14 axon initial segment GO:0043194 9.33 KCNQ2 KCNQ3 SCN1A
15 acetylcholine-gated channel complex GO:0005892 9.13 CHRNA2 CHRNA4 CHRNB2
16 node of Ranvier GO:0033268 8.92 KCNQ2 KCNQ3 SCN1A SCN1B
17 membrane GO:0016020 10.27 BTNL2 CHRNA2 CHRNA4 CHRNB2 GABRG2 KCNA1
18 integral component of membrane GO:0016021 10.07 BTNL2 CHRNA2 CHRNA4 CHRNB2 GABRG2 KCNA1
19 plasma membrane GO:0005886 10.02 BTNL2 CHRNA2 CHRNA4 CHRNB2 GABRG2 KCNA1

Biological processes related to Epilepsy, Nocturnal Frontal Lobe, 1 according to GeneCards Suite gene sharing:

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.9 KCNA1 KCNQ2 KCNQ3 SCN1A
2 ion transmembrane transport GO:0034220 9.8 CHRNA2 CHRNA4 CHRNB2 GABRG2 KCNQ2 SCN1A
3 regulation of ion transmembrane transport GO:0034765 9.77 KCNA1 KCNQ2 KCNQ3 SCN1A SCN1B
4 potassium ion transport GO:0006813 9.74 KCNA1 KCNQ2 KCNQ3
5 potassium ion transmembrane transport GO:0071805 9.72 KCNA1 KCNQ2 KCNQ3
6 nervous system process GO:0050877 9.71 CHRNA2 CHRNA4 CHRNB2 GABRG2
7 regulation of postsynaptic membrane potential GO:0060078 9.65 CHRNA2 CHRNA4 CHRNB2 GABRG2 KCNA1
8 sensory perception of pain GO:0019233 9.64 CHRNA4 CHRNB2
9 regulation of synaptic vesicle exocytosis GO:2000300 9.64 CHRNA4 CHRNB2
10 cognition GO:0050890 9.63 CHRNA4 CHRNB2
11 response to cocaine GO:0042220 9.63 CHRNB2 CRH
12 excitatory postsynaptic potential GO:0060079 9.63 CHRNA2 CHRNA4 CHRNB2
13 regulation of membrane potential GO:0042391 9.63 CHRNA2 CHRNA4 CHRNB2 GABRG2 KCNA1 SCN1A
14 response to nicotine GO:0035094 9.62 CHRNA4 CHRNB2
15 neuromuscular synaptic transmission GO:0007274 9.62 CHRNA4 CHRNB2
16 regulation of dopamine secretion GO:0014059 9.61 CHRNA4 CHRNB2
17 associative learning GO:0008306 9.61 CHRNB2 CRH
18 membrane depolarization GO:0051899 9.61 CHRNA4 CHRNB2 SCN1B
19 ion transport GO:0006811 9.61 CHRNA2 CHRNA4 CHRNB2 GABRG2 KCNA1 KCNQ2
20 B cell activation GO:0042113 9.59 CHRNA4 CHRNB2
21 neuronal action potential GO:0019228 9.58 KCNA1 SCN1A
22 synaptic transmission, cholinergic GO:0007271 9.58 CHRNA4 CHRNB2
23 action potential GO:0001508 9.56 CHRNA4 CHRNB2
24 cardiac muscle cell action potential involved in contraction GO:0086002 9.54 SCN1A SCN1B
25 detection of mechanical stimulus involved in sensory perception of pain GO:0050966 9.52 KCNA1 SCN1A
26 acetylcholine receptor signaling pathway GO:0095500 9.51 CHRNA4 CHRNB2
27 neuronal action potential propagation GO:0019227 9.49 SCN1A SCN1B
28 behavioral response to nicotine GO:0035095 9.48 CHRNA4 CHRNB2
29 chemical synaptic transmission GO:0007268 9.23 CHRNA2 CHRNA4 CHRNB2 CRH GABRG2 KCNA1

Molecular functions related to Epilepsy, Nocturnal Frontal Lobe, 1 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 potassium channel activity GO:0005267 9.65 KCNA1 KCNQ2 KCNQ3
2 voltage-gated potassium channel activity GO:0005249 9.63 KCNA1 KCNQ2 KCNQ3
3 delayed rectifier potassium channel activity GO:0005251 9.58 KCNA1 KCNQ2 KCNQ3
4 acetylcholine binding GO:0042166 9.54 CHRNA2 CHRNA4 CHRNB2
5 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.52 CHRNB2 GABRG2
6 sodium channel activity GO:0005272 9.51 SCN1A SCN1B
7 acetylcholine-gated cation-selective channel activity GO:0022848 9.5 CHRNA2 CHRNA4 CHRNB2
8 voltage-gated sodium channel activity GO:0005248 9.49 SCN1A SCN1B
9 extracellular ligand-gated ion channel activity GO:0005230 9.46 CHRNA2 CHRNA4 CHRNB2 GABRG2
10 ligand-gated ion channel activity GO:0015276 9.43 CHRNA4 CHRNB2
11 acetylcholine receptor activity GO:0015464 9.43 CHRNA2 CHRNA4 CHRNB2
12 voltage-gated ion channel activity GO:0005244 9.35 KCNA1 KCNQ2 KCNQ3 SCN1A SCN1B
13 ion channel activity GO:0005216 9.1 CHRNA2 CHRNA4 CHRNB2 GABRG2 KCNA1 SCN1A

Sources for Epilepsy, Nocturnal Frontal Lobe, 1

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
Content
Loading form....