ENFL1
MCID: EPL073
MIFTS: 49

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 57 74 13
Epilepsy, Nocturnal Frontal Lobe, Type 1 29 6 72
Enfl1 57 12 74
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 1 12 15
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 74 72
Epilepsy, Frontal Lobe, Nocturnal, Type 1 40
Nocturnal Frontal Lobe Epilepsy 1 12
Epilepsy, Frontal Lobe 44
Adnfle 74

Characteristics:

OMIM:

57
Miscellaneous:
incomplete penetrance
onset in childhood
may be misdiagnosed as nightmares, night terrors, parasomnias, or psychiatric disorders

Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0060682
MeSH 44 D017034
MedGen 42 C1838049
UMLS 72 C1838049 C3696898

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. The drug Anticonvulsants has been mentioned in the context of this disorder. Affiliated tissues include brain and temporal lobe, 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 : 74 Epilepsy, nocturnal frontal lobe, 1: An autosomal dominant focal epilepsy characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements.

Wikipedia : 75 Template:Infobox medical condition/Wikidata Frontal lobe epilepsy, or FLE, is a neurological disorder... 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

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

(showing 60, show less)
# Related Disease Score Top Affiliating Genes
1 epilepsy, nocturnal frontal lobe, 3 34.5 CHRNB2 CHRNA4
2 autosomal dominant nocturnal frontal lobe epilepsy 32.1 CRH CHRNB2 CHRNA4 CHRNA2
3 seizure disorder 30.7 SCN1A KCNQ2
4 benign neonatal seizures 30.1 KCNQ3 KCNQ2 KCNA1
5 early myoclonic encephalopathy 30.0 SCN1B SCN1A GABRG2
6 childhood absence epilepsy 29.8 SCN1B GABRG2 CHRNA4
7 focal epilepsy 29.6 SCN1A KCNA1 GABRG2 CHRNB2 CHRNA4 CHRNA2
8 benign epilepsy with centrotemporal spikes 29.1 SCN1B KCNQ3 KCNQ2 GABRG2
9 generalized epilepsy with febrile seizures plus 28.8 SCN1B SCN1A KCNQ3 KCNQ2 GABRG2
10 epilepsy 28.7 SCN1B SCN1A KCNQ3 KCNQ2 GABRG2 CHRNB2
11 febrile seizures 28.5 SCN1B SCN1A KCNQ2 GABRG2 CHRNB2 CHRNA4
12 epilepsy, familial focal, with variable foci 2 11.4
13 epilepsy, familial focal, with variable foci 3 11.4
14 epilepsy, familial focal, with variable foci 4 11.4
15 epilepsy, nocturnal frontal lobe, 2 11.2
16 epilepsy, nocturnal frontal lobe, 4 11.2
17 epilepsy, nocturnal frontal lobe, 5 11.2
18 visual epilepsy 10.5
19 epilepsy, familial focal, with variable foci 1 10.5
20 dystonia 10.5
21 depdc5-related epilepsy 10.4
22 epilepsy, partial, familial 10.4
23 paroxysmal dystonia 10.4
24 seizures, benign familial neonatal, 2 10.3 KCNQ3 KCNQ2
25 immunoglobulin e concentration, serum 10.2
26 autism 10.2
27 epilepsy, myoclonic juvenile 10.2
28 yemenite deaf-blind hypopigmentation syndrome 10.2
29 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 10.2
30 alacrima, achalasia, and mental retardation syndrome 10.2
31 pervasive developmental disorder 10.2
32 autism spectrum disorder 10.2
33 status epilepticus 10.2
34 temporal lobe epilepsy 10.2
35 unverricht-lundborg syndrome 10.2
36 night blindness 10.2
37 47,xyy 10.2
38 kcnt1-related epilepsy 10.2
39 genetic epilepsy with febrile seizures plus 10.2
40 myoclonic epilepsy of infancy 10.2 SCN1A GABRG2
41 tobacco addiction 10.1 CHRNB2 CHRNA4 CHRNA2
42 epileptic encephalopathy, early infantile, 14 10.1
43 malignant migrating partial seizures of infancy 10.1
44 childhood electroclinical syndrome 10.0 KCNQ3 GABRG2
45 early onset absence epilepsy 10.0 SCN1B CHRNB2
46 adolescence-adult electroclinical syndrome 10.0 SCN1A GABRG2
47 encephalopathy 10.0
48 generalized epilepsy with febrile seizures plus, type 1 9.9 SCN1B SCN1A
49 neonatal period electroclinical syndrome 9.9 SCN1A KCNQ3 KCNQ2
50 benign familial neonatal epilepsy 9.9 KCNQ3 KCNQ2 CRH
51 west syndrome 9.7 SCN1A KCNQ2 CRH
52 lennox-gastaut syndrome 9.6 SCN1A GABRG2
53 early infantile epileptic encephalopathy 9.6 SCN1A KCNQ2 KCNA1
54 long qt syndrome 9.6 SCN1B KCNQ3 KCNQ2
55 benign familial infantile epilepsy 9.5 SCN1B KCNQ3 KCNQ2 CHRNA2
56 infancy electroclinical syndrome 9.3 SCN1B SCN1A KCNQ2 GABRG2
57 epilepsy, idiopathic generalized 10 9.2 SCN1A KCNQ3 KCNA1 GABRG2 CHRNA4
58 epileptic encephalopathy, early infantile, 6 9.0 SCN1B SCN1A KCNQ3 KCNQ2 GABRG2
59 seizures, benign familial infantile, 3 8.3 SCN1B SCN1A KCNQ3 KCNQ2 KCNA1 GABRG2
60 epilepsy, idiopathic generalized 8.0 SCN1B SCN1A KCNQ3 KCNQ2 KCNA1 GABRG2

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:

32 (showing 2, show less)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 occasional (7.5%) HP:0001249
2 focal-onset seizure 32 HP:0007359

Symptoms via clinical synopsis from OMIM:

57
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:

46 (showing 5, show less)
# 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

Drugs for Epilepsy, Nocturnal Frontal Lobe, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 1, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anticonvulsants

Interventional clinical trials:

(showing 8, show less)
# Name Status NCT ID Phase Drugs
1 PET Study of the Nicotinic System in Epilepsy Completed NCT03268369
2 Transcranial Magnetic Stimulation and Anti-epileptic Effect: Optimization and Evaluation With Electrophysiology. Completed NCT00382707
3 The Rolandic Epilepsy/ESES/Landau-Kleffner Syndrome and Correlation With Language Impairment Study Completed NCT01335425
4 Co-operative Behavior and Decision-making in Frontal Lobe Epilepsy Completed NCT02441478
5 MRI in Autosomal Dominant Partial Epilepsy With Auditory Features Completed NCT00072813
6 Surgery as a Treatment for Medically Intractable Epilepsy Recruiting NCT01273129
7 Evaluation and Treatment of Patients With Epilepsy Terminated NCT00013845
8 PET Study of the Nicotinic Receptors in Human : Brain Distribution and Quantification Terminated NCT00543322

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:

(showing 56, show less)
# Title Authors PMID Year
1
A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy. 9 8 71
10563623 1999
2
Reduced striatal D1 receptor binding in autosomal dominant nocturnal frontal lobe epilepsy. 8 71
18685138 2008
3
A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation. 8 71
14623738 2003
4
Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2. 8 71
7647781 1995
5
Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene. 9 71
10448807 1999
6
Exon-intron structure of the human neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4). 9 71
8833159 1996
7
A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. 9 8
7550350 1995
8
Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation. 71
21753767 2011
9
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 71
20301348 2002
10
Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. 8
9758605 1998
11
[Autosomal dominant nocturnal frontal lobe epilepsy]. 8
9773047 1998
12
Autosomal dominant nocturnal frontal lobe epilepsy: demonstration of focal frontal onset and intrafamilial variation. 8
9339675 1997
13
Alternative mechanism for pathogenesis of an inherited epilepsy by a nicotinic AChR mutation. 71
8696332 1996
14
Genetic linkage studies in familial frontal epilepsy: exclusion of the human chromosome regions homologous to the El-1 mouse locus. 8
8991790 1995
15
A discrete site for general anesthetics on a postsynaptic receptor. 71
7476881 1995
16
Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder. 8
7895015 1995
17
Refinement of the localization of the gene for neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4) to human chromosome 20q13.2-q13.3. 71
7806245 1994
18
Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder. 8
7906762 1994
19
A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1. 9 38
11094099 2000
20
Neuropsychological function in patients with a single gene mutation associated with autosomal dominant nocturnal frontal lobe epilepsy. 9
20189461 2010
21
The 1674+11C>T polymorphism of CHRNA4 is associated with juvenile myoclonic epilepsy. 9
19577488 2009
22
Deletions involving both KCNQ2 and CHRNA4 present with benign familial neonatal seizures. 9
19822871 2009
23
Pleiotropic functional effects of the first epilepsy-associated mutation in the human CHRNA2 gene. 9
19383498 2009
24
A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy. 9
19058950 2009
25
CHRNA2 mutations are rare in the NFLE population: evaluation of a large cohort of Italian patients. 9
18226955 2009
26
Compound heterozygosity with dominance in the Corticotropin Releasing Hormone (CRH) promoter in a case of nocturnal frontal lobe epilepsy. 9
18844820 2008
27
Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore. 9
18456869 2008
28
Autosomal dominant nocturnal frontal lobe epilepsy and mild memory impairment associated with CHRNB2 mutation I312M in the neuronal nicotinic acetylcholine receptor. 9
18534914 2008
29
Autosomal dominant nocturnal frontal lobe epilepsy with a mutation in the CHRNB2 gene. 9
17900292 2008
30
A major role of the nicotinic acetylcholine receptor gene CHRNA2 in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is unlikely. 9
17602836 2007
31
Association of idiopathic generalized epilepsy with polymorphisms in the neuronal nicotinic acetylcholine receptor subunits. 9
17385675 2007
32
Role of genetics in the diagnosis and treatment of epilepsy. 9
17181426 2006
33
Frontal lobe epilepsy and mutations of the corticotropin-releasing hormone gene. 9
16222669 2005
34
Evidence for a fourth locus for autosomal dominant nocturnal frontal lobe epilepsy. 38
15245761 2004
35
[Genetic background of epilepsies]. 9
15264690 2004
36
Association of the neuronal nicotinic acetylcholine receptor subunit alpha4 polymorphisms with febrile convulsions. 9
12887442 2003
37
Evidence for S284L mutation of the CHRNA4 in a white family with autosomal dominant nocturnal frontal lobe epilepsy. 9
12887446 2003
38
Genetics of epilepsy: current status and perspectives. 9
12204289 2002
39
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. 9
12195439 2002
40
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. 9
11952766 2002
41
Channelopathies can cause epilepsy in man. 9
11888238 2002
42
Molecular genetics of human familial epilepsy syndromes. 9
12383275 2002
43
Ion channels and epilepsy. 9
11579435 2001
44
Genes and mutations in idiopathic epilepsy. 9
11579434 2001
45
Failure to replicate association between the gene for the neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4) and IGE. 9
11121188 2000
46
The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. 38
11062464 2000
47
A de novo mutation in sporadic nocturnal frontal lobe epilepsy. 9
10939581 2000
48
Impact of our understanding of the genetic aetiology of epilepsy. 9
10896263 2000
49
Independent occurrence of the CHRNA4 Ser248Phe mutation in a Norwegian family with nocturnal frontal lobe epilepsy. 9
10802757 2000
50
SER252PHE and 776INS3 mutations in the CHRNA4 gene are rare in the Italian ADNFLE population. 9
10450598 1999
51
Idiopathic epilepsies with a monogenic mode of inheritance. 9
10446744 1999
52
The structures of the human neuronal nicotinic acetylcholine receptor beta2- and alpha3-subunit genes (CHRNB2 and CHRNA3). 9
9921897 1998
53
Autosomal dominant nocturnal frontal lobe epilepsy. A video-polysomnographic and genetic appraisal of 40 patients and delineation of the epileptic syndrome. 9
9549500 1998
54
Mutation causing autosomal dominant nocturnal frontal lobe epilepsy alters Ca2+ permeability, conductance, and gating of human alpha4beta2 nicotinic acetylcholine receptors. 9
9364050 1997
55
Possible association of a silent polymorphism in the neuronal nicotinic acetylcholine receptor subunit alpha4 with common idiopathic generalized epilepsies. 9
9259383 1997
56
An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy. 9
9175743 1997

Variations for Epilepsy, Nocturnal Frontal Lobe, 1

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

6 (showing 22, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CHRNA4 NM_000744.6(CHRNA4): c.839C> T (p.Ser280Phe) single nucleotide variant Pathogenic rs121909580 20:61981924-61981924 20:63350572-63350572
2 CHRNA4 CHRNA4, 3-BP INS, 776GCT insertion Pathogenic
3 CHRNA4 NM_000744.6(CHRNA4): c.851C> T (p.Ser284Leu) single nucleotide variant Pathogenic rs28931591 20:61981912-61981912 20:63350560-63350560
4 CHRNA4 NM_000744.6(CHRNA4): c.867_869GCT[3] (p.Leu291dup) short repeat Pathogenic rs281865067 20:61981891-61981893 20:63350539-63350541
5 CHRNA4 NM_000744.6(CHRNA4): c.878C> T (p.Thr293Ile) single nucleotide variant Pathogenic rs281865066 20:61981885-61981885 20:63350533-63350533
6 CHRNA4 NM_000744.6(CHRNA4): c.138C> T (p.Ser46=) single nucleotide variant Conflicting interpretations of pathogenicity rs200705061 20:61990990-61990990 20:63359638-63359638
7 CHRNA4 NM_000744.6(CHRNA4): c.1460G> A (p.Arg487Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs121912280 20:61981303-61981303 20:63349951-63349951
8 CHRNA4 NM_000744.6(CHRNA4): c.274G> C (p.Glu92Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs146651027 20:61987436-61987436 20:63356084-63356084
9 CHRNA4 NM_000744.6(CHRNA4): c.496A> T (p.Thr166Ser) single nucleotide variant Uncertain significance 20:61982267-61982267 20:63350915-63350915
10 CHRNA4 NM_000744.6(CHRNA4): c.1792A> G (p.Ile598Val) single nucleotide variant Uncertain significance rs1019612389 20:61978182-61978182 20:63346830-63346830
11 CHRNA4 NM_000744.6(CHRNA4): c.799C> T (p.Leu267=) single nucleotide variant Uncertain significance rs121912256 20:61981964-61981964 20:63350612-63350612
12 CHRNA4 NM_000744.6(CHRNA4): c.1667C> G (p.Pro556Arg) single nucleotide variant Uncertain significance rs77345643 20:61981096-61981096 20:63349744-63349744
13 CHRNA4 NM_000744.6(CHRNA4): c.1448G> A (p.Arg483Gln) single nucleotide variant Uncertain significance rs55855125 20:61981315-61981315 20:63349963-63349963
14 CHRNA4 NM_000744.6(CHRNA4): c.1430C> T (p.Ala477Val) single nucleotide variant Uncertain significance rs200243948 20:61981333-61981333 20:63349981-63349981
15 CHRNA4 NM_000744.6(CHRNA4): c.1316A> C (p.Lys439Thr) single nucleotide variant Uncertain significance rs796052318 20:61981447-61981447 20:63350095-63350095
16 CHRNA4 NM_000744.6(CHRNA4): c.358C> T (p.Arg120Trp) single nucleotide variant Uncertain significance rs200010568 20:61987352-61987352 20:63356000-63356000
17 CHRNA4 NM_000744.6(CHRNA4): c.1007G> A (p.Arg336His) single nucleotide variant Uncertain significance rs281865068 20:61981756-61981756 20:63350404-63350404
18 CHRNA4 NM_000744.6(CHRNA4): c.1209G> T (p.Pro403=) single nucleotide variant Benign rs2229959 20:61981554-61981554 20:63350202-63350202
19 CHRNA4 NM_000744.6(CHRNA4): c.1227T> C (p.Cys409=) single nucleotide variant Benign rs2229960 20:61981536-61981536 20:63350184-63350184
20 CHRNA4 NM_000744.6(CHRNA4): c.1758+14A> G single nucleotide variant Benign rs3827020 20:61980991-61980991 20:63349639-63349639
21 CHRNA4 NM_000744.6(CHRNA4): c.51G> A (p.Leu17=) single nucleotide variant Benign rs79739740 20:61992467-61992467 20:63361115-63361115
22 CHRNA4 NM_000744.6(CHRNA4): c.189C> T (p.Leu63=) single nucleotide variant Benign rs2273506 20:61990939-61990939 20:63359587-63359587

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

74 (showing 2, show less)
# Symbol AA change Variation ID SNP ID
1 CHRNA4 p.Ser280Phe VAR_000295 rs121909580
2 CHRNA4 p.Ser280Leu VAR_017531

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:

(showing 9, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.64 SCN1A KCNQ3 KCNQ2 CHRNB2 CHRNA4
2
Show member pathways
12.35 KCNQ3 KCNQ2 KCNA1 GABRG2 CHRNB2 CHRNA4
3 11.96 KCNQ3 KCNQ2 KCNA1
4
Show member pathways
11.75 KCNQ3 KCNQ2 KCNA1
5
Show member pathways
11.55 SCN1B SCN1A KCNQ3 KCNQ2
6
Show member pathways
11.41 CHRNB2 CHRNA4 CHRNA2
7 11.22 KCNQ3 KCNQ2
8 11.03 GABRG2 CHRNB2 CHRNA4
9 10.4 SCN1B SCN1A KCNQ3 KCNQ2

GO Terms for Epilepsy, Nocturnal Frontal Lobe, 1

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

(showing 19, show less)
# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.91 KCNA1 GABRG2 CHRNB2 CHRNA4 CHRNA2
2 neuron projection GO:0043005 9.86 GABRG2 CHRNB2 CHRNA4 CHRNA2
3 neuronal cell body GO:0043025 9.85 SCN1A KCNA1 CRH CHRNA4
4 synapse GO:0045202 9.83 KCNA1 GABRG2 CHRNB2 CHRNA4 CHRNA2
5 integral component of plasma membrane GO:0005887 9.8 KCNQ3 KCNQ2 KCNA1 GABRG2 CHRNB2 CHRNA4
6 postsynaptic membrane GO:0045211 9.76 GABRG2 CHRNB2 CHRNA4 CHRNA2
7 voltage-gated potassium channel complex GO:0008076 9.67 KCNQ3 KCNQ2 KCNA1
8 intercalated disc GO:0014704 9.58 SCN1B SCN1A
9 T-tubule GO:0030315 9.58 SCN1B SCN1A
10 voltage-gated sodium channel complex GO:0001518 9.54 SCN1B SCN1A
11 integral component of presynaptic membrane GO:0099056 9.54 KCNA1 CHRNB2 CHRNA4
12 dopaminergic synapse GO:0098691 9.52 CHRNB2 CHRNA4
13 sodium channel complex GO:0034706 9.48 SCN1B SCN1A
14 axon initial segment GO:0043194 9.33 SCN1A KCNQ3 KCNQ2
15 acetylcholine-gated channel complex GO:0005892 9.13 CHRNB2 CHRNA4 CHRNA2
16 node of Ranvier GO:0033268 8.92 SCN1B SCN1A KCNQ3 KCNQ2
17 membrane GO:0016020 10.27 SCN1B SCN1A KCNQ3 KCNQ2 KCNA1 GABRG2
18 integral component of membrane GO:0016021 10.1 SCN1B SCN1A KCNQ3 KCNQ2 KCNA1 GABRG2
19 plasma membrane GO:0005886 10.02 SCN1B SCN1A KCNQ3 KCNQ2 KCNA1 GABRG2

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

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

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

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

Sources for Epilepsy, Nocturnal Frontal Lobe, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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