MCID: EPL073
MIFTS: 47

Epilepsy, Nocturnal Frontal Lobe, 1

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Epilepsy, Nocturnal Frontal Lobe, 1

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

Name: Epilepsy, Nocturnal Frontal Lobe, 1 57 75 13
Epilepsy, Nocturnal Frontal Lobe, Type 1 29 6 73
Enfl1 57 12 75
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 1 12 15
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 75 73
Epilepsy, Frontal Lobe, Nocturnal, Type 1 40
Nocturnal Frontal Lobe Epilepsy 1 12
Epilepsy, Frontal Lobe 44
Adnfle 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
epilepsy, nocturnal frontal lobe, 1:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance childhood onset


Classifications:



External Ids:

OMIM 57 600513
Disease Ontology 12 DOID:0060682
MedGen 42 C1838049
MeSH 44 D017034

Summaries for Epilepsy, Nocturnal Frontal Lobe, 1

OMIM : 57 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 epilepsy, nocturnal frontal lobe, 3 and autosomal dominant nocturnal frontal lobe epilepsy. 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 brain and temporal lobe, and related phenotypes are intellectual disability and focal seizures

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 : 75 Epilepsy, nocturnal frontal lobe, 1: An autosomal dominant focal epilepsy characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements.

Wikipedia : 76 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 related to Epilepsy, Nocturnal Frontal Lobe, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 epilepsy, nocturnal frontal lobe, 3 32.6 CHRNA4 CHRNB2
2 autosomal dominant nocturnal frontal lobe epilepsy 31.6 CHRNA2 CHRNA4 CHRNB2 CRH
3 childhood absence epilepsy 29.5 CHRNA4 GABRG2 SCN1B
4 benign epilepsy with centrotemporal spikes 28.7 GABRG2 KCNQ2 KCNQ3 SCN1B
5 epilepsy, idiopathic generalized 10 28.2 CHRNA4 GABRG2 KCNA1 KCNQ3 SCN1A
6 epilepsy 27.1 CHRNA2 CHRNA4 CHRNB2 GABRG2 KCNQ2 KCNQ3
7 epilepsy, nocturnal frontal lobe, 5 11.2
8 autosomal dominant nocturnal frontal lobe epilepsy 4 11.2
9 epilepsy, familial focal, with variable foci 2 11.1
10 epilepsy, familial focal, with variable foci 3 11.1
11 benign neonatal seizures 10.3 KCNQ2 KCNQ3
12 myoclonic epilepsy of infancy 10.3 GABRG2 SCN1A
13 tobacco addiction 10.2 CHRNA2 CHRNA4 CHRNB2
14 early onset absence epilepsy 10.0 CHRNB2 SCN1B
15 childhood electroclinical syndrome 10.0 GABRG2 KCNQ2
16 adolescence-adult electroclinical syndrome 10.0 GABRG2 SCN1A
17 neonatal period electroclinical syndrome 9.9 KCNQ2 KCNQ3 SCN1A
18 generalized epilepsy with febrile seizures plus, type 1 9.9 SCN1A SCN1B
19 epileptic encephalopathy, early infantile, 15 9.9 KCNQ2 KCNQ3 SCN1A
20 central nervous system disease 9.9 CHRNA4 KCNQ2 SCN1A
21 benign familial neonatal epilepsy 9.9 CRH KCNQ2 KCNQ3
22 epileptic encephalopathy, early infantile, 9 9.8 KCNQ2 SCN1A
23 autosomal dominant nocturnal frontal lobe epilepsy 2 9.7 BTNL2 CHRNA4 CHRNB2
24 west syndrome 9.6 CRH KCNQ2 SCN1A
25 lennox-gastaut syndrome 9.6 KCNQ2 SCN1A
26 early myoclonic encephalopathy 9.5 GABRG2 SCN1A SCN1B
27 long qt syndrome 9.5 KCNQ2 KCNQ3 SCN1B
28 benign familial infantile epilepsy 9.4 CHRNA2 KCNQ2 KCNQ3 SCN1B
29 infancy electroclinical syndrome 9.2 GABRG2 KCNQ2 SCN1A SCN1B
30 epileptic encephalopathy, early infantile, 6 8.8 GABRG2 KCNQ2 KCNQ3 SCN1A SCN1B
31 generalized epilepsy with febrile seizures plus 8.8 GABRG2 KCNQ2 KCNQ3 SCN1A SCN1B
32 focal epilepsy 8.7 CHRNA2 CHRNA4 CHRNB2 GABRG2 KCNA1 SCN1A
33 febrile seizures 8.5 CHRNA4 CHRNB2 GABRG2 KCNQ2 SCN1A SCN1B
34 seizures, benign familial infantile, 3 7.8 CHRNA4 GABRG2 KCNA1 KCNQ2 KCNQ3 SCN1A
35 epilepsy, idiopathic generalized 7.5 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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
motor seizures, nocturnal, usually occur in clusters (up to 8 per night) during dozing or on awakening
arm flexion
tonic head extension
unintelligible speech
mouth movements
more

Clinical features from OMIM:

600513

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

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 occasional (7.5%) HP:0001249
2 focal seizures 32 HP:0007359

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

46
# 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 KCNA1 KCNQ2 KCNQ3 SCN1A SCN1B CHRNB2
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 29 CHRNA4

Anatomical Context for Epilepsy, Nocturnal Frontal Lobe, 1

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

41
Brain, Temporal Lobe

Publications for Epilepsy, Nocturnal Frontal Lobe, 1

Articles related to Epilepsy, Nocturnal Frontal Lobe, 1:

(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 Epilepsy, Nocturnal Frontal Lobe, 1

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

75
# 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 13)
# 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.870_872dupGCT (p.Leu291_Ile292insLeu) duplication Pathogenic rs281865067 GRCh37 Chromosome 20, 61981891: 61981893
7 CHRNA4 NM_000744.6(CHRNA4): c.870_872dupGCT (p.Leu291_Ile292insLeu) duplication Pathogenic rs281865067 GRCh38 Chromosome 20, 63350539: 63350541
8 CHRNA4 NM_000744.6(CHRNA4): c.878C> T (p.Thr293Ile) single nucleotide variant Pathogenic rs281865066 GRCh37 Chromosome 20, 61981885: 61981885
9 CHRNA4 NM_000744.6(CHRNA4): c.878C> T (p.Thr293Ile) single nucleotide variant Pathogenic rs281865066 GRCh38 Chromosome 20, 63350533: 63350533
10 CHRNA4 NM_000744.6(CHRNA4): c.1316A> C (p.Lys439Thr) single nucleotide variant Uncertain significance rs796052318 GRCh37 Chromosome 20, 61981447: 61981447
11 CHRNA4 NM_000744.6(CHRNA4): c.1316A> C (p.Lys439Thr) single nucleotide variant Uncertain significance rs796052318 GRCh38 Chromosome 20, 63350095: 63350095
12 CHRNA4 NM_000744.6(CHRNA4): c.274G> C (p.Glu92Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs146651027 GRCh37 Chromosome 20, 61987436: 61987436
13 CHRNA4 NM_000744.6(CHRNA4): c.274G> C (p.Glu92Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs146651027 GRCh38 Chromosome 20, 63356084: 63356084

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.64 CHRNA4 CHRNB2 KCNQ2 KCNQ3 SCN1A
2
Show member pathways
12.35 CHRNA2 CHRNA4 CHRNB2 GABRG2 KCNA1 KCNQ2
3 11.96 KCNA1 KCNQ2 KCNQ3
4
Show member pathways
11.75 KCNA1 KCNQ2 KCNQ3
5
Show member pathways
11.55 KCNQ2 KCNQ3 SCN1A SCN1B
6
Show member pathways
11.43 CHRNA2 CHRNA4 CHRNB2
7 11.03 CHRNA4 CHRNB2 GABRG2
8 10.4 KCNQ2 KCNQ3 SCN1A SCN1B

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 18)
# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.89 CHRNA2 CHRNA4 CHRNB2 GABRG2 KCNA1
2 neuron projection GO:0043005 9.84 CHRNA2 CHRNA4 CHRNB2 GABRG2
3 neuronal cell body GO:0043025 9.83 CHRNA4 CRH KCNA1 SCN1A
4 integral component of plasma membrane GO:0005887 9.8 CHRNA2 CHRNA4 CHRNB2 GABRG2 KCNA1 KCNQ2
5 synapse GO:0045202 9.77 CHRNA2 CHRNA4 CHRNB2 GABRG2 KCNA1
6 external side of plasma membrane GO:0009897 9.75 BTNL2 CHRNA4 CHRNB2
7 postsynaptic membrane GO:0045211 9.71 CHRNA2 CHRNA4 CHRNB2 GABRG2
8 voltage-gated potassium channel complex GO:0008076 9.65 KCNA1 KCNQ2 KCNQ3
9 intercalated disc GO:0014704 9.57 SCN1A SCN1B
10 T-tubule GO:0030315 9.56 SCN1A SCN1B
11 voltage-gated sodium channel complex GO:0001518 9.51 SCN1A SCN1B
12 sodium channel complex GO:0034706 9.46 SCN1A SCN1B
13 acetylcholine-gated channel complex GO:0005892 9.33 CHRNA2 CHRNA4 CHRNB2
14 axon initial segment GO:0043194 9.13 KCNQ2 KCNQ3 SCN1A
15 node of Ranvier GO:0033268 8.92 KCNQ2 KCNQ3 SCN1A SCN1B
16 membrane GO:0016020 10.25 BTNL2 CHRNA2 CHRNA4 CHRNB2 GABRG2 KCNA1
17 integral component of membrane GO:0016021 10.13 BTNL2 CHRNA2 CHRNA4 CHRNB2 GABRG2 KCNA1
18 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 28)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.92 KCNA1 KCNQ2 KCNQ3 SCN1A
2 ion transmembrane transport GO:0034220 9.8 CHRNA2 CHRNA4 CHRNB2 GABRG2 KCNQ2 SCN1A
3 potassium ion transport GO:0006813 9.77 KCNA1 KCNQ2 KCNQ3
4 regulation of ion transmembrane transport GO:0034765 9.77 KCNA1 KCNQ2 KCNQ3 SCN1A SCN1B
5 potassium ion transmembrane transport GO:0071805 9.76 KCNA1 KCNQ2 KCNQ3
6 excitatory postsynaptic potential GO:0060079 9.71 CHRNA2 CHRNA4 CHRNB2
7 nervous system process GO:0050877 9.71 CHRNA2 CHRNA4 CHRNB2 GABRG2
8 response to nicotine GO:0035094 9.67 CHRNA2 CHRNA4 CHRNB2
9 neuromuscular synaptic transmission GO:0007274 9.65 CHRNA2 CHRNA4 CHRNB2
10 sensory perception of pain GO:0019233 9.64 CHRNA4 CHRNB2
11 cognition GO:0050890 9.63 CHRNA4 CHRNB2
12 response to cocaine GO:0042220 9.63 CHRNB2 CRH
13 synaptic transmission, cholinergic GO:0007271 9.63 CHRNA2 CHRNA4 CHRNB2
14 regulation of membrane potential GO:0042391 9.63 CHRNA2 CHRNA4 CHRNB2 GABRG2 KCNA1 SCN1A
15 associative learning GO:0008306 9.62 CHRNB2 CRH
16 B cell activation GO:0042113 9.61 CHRNA4 CHRNB2
17 neuronal action potential GO:0019228 9.61 KCNA1 SCN1A
18 membrane depolarization GO:0051899 9.61 CHRNA4 CHRNB2 SCN1B
19 ion transport GO:0006811 9.61 CHRNA2 CHRNA4 CHRNB2 GABRG2 KCNA1 KCNQ2
20 regulation of dopamine secretion GO:0014059 9.6 CHRNA4 CHRNB2
21 action potential GO:0001508 9.58 CHRNA4 CHRNB2
22 cardiac muscle cell action potential involved in contraction GO:0086002 9.57 SCN1A SCN1B
23 detection of mechanical stimulus involved in sensory perception of pain GO:0050966 9.56 KCNA1 SCN1A
24 regulation of postsynaptic membrane potential GO:0060078 9.56 CHRNA2 CHRNA4 CHRNB2 GABRG2
25 behavioral response to nicotine GO:0035095 9.55 CHRNA4 CHRNB2
26 neuronal action potential propagation GO:0019227 9.52 SCN1A SCN1B
27 acetylcholine receptor signaling pathway GO:0095500 9.51 CHRNA4 CHRNB2
28 chemical synaptic transmission GO:0007268 9.28 CHRNA2 CHRNA4 CHRNB2 CRH GABRG2 KCNA1

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

(show all 12)
# 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 ligand-gated ion channel activity GO:0015276 9.61 CHRNA2 CHRNA4 CHRNB2
4 delayed rectifier potassium channel activity GO:0005251 9.58 KCNA1 KCNQ2 KCNQ3
5 acetylcholine binding GO:0042166 9.54 CHRNA2 CHRNA4 CHRNB2
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 acetylcholine receptor activity GO:0015464 9.43 CHRNA2 CHRNA4 CHRNB2
11 voltage-gated ion channel activity GO:0005244 9.35 KCNA1 KCNQ2 KCNQ3 SCN1A SCN1B
12 ion channel activity GO:0005216 9.1 CHRNA2 CHRNA4 CHRNB2 GABRG2 KCNA1 SCN1A

Sources for Epilepsy, Nocturnal Frontal Lobe, 1

3 CDC
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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30 HGMD
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58 OMIM via Orphanet
62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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