ENFL1
MCID: EPL073
MIFTS: 47

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 72 13
Epilepsy, Nocturnal Frontal Lobe, Type 1 29 6 70
Enfl1 57 12 72
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 1 12 15
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 72 70
Epilepsy, Frontal Lobe, Nocturnal, Type 1 39
Nocturnal Frontal Lobe Epilepsy 1 12
Epilepsy, Frontal Lobe 44
Adnfle 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
incomplete penetrance
onset in childhood
may be misdiagnosed as nightmares, night terrors, parasomnias, or psychiatric disorders

Inheritance:
autosomal dominant


HPO:

31
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
OMIM® 57 600513
OMIM Phenotypic Series 57 PS600513
MeSH 44 D017034
MedGen 41 C1838049
UMLS 70 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) (Updated 05-Apr-2021)

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 epilepsy, nocturnal frontal lobe, 2. 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 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 : 72 Epilepsy, nocturnal frontal lobe, 1: An autosomal dominant focal epilepsy characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements.

Wikipedia : 73 Frontal lobe epilepsy (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

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

(show top 50) (show all 102)
# Related Disease Score Top Affiliating Genes
1 epilepsy, nocturnal frontal lobe, 3 33.2 CHRNB2 CHRNA4
2 epilepsy, nocturnal frontal lobe, 2 31.2 CHRNB2 CHRNA4 BTNL2
3 focal epilepsy 30.3 SCN1A KCNA1 GABRG2 CHRNB2 CHRNA4 CHRNA2
4 developmental and epileptic encephalopathy 14 30.2 SCN1A KCNA1 CHRNA4
5 seizure disorder 29.8 SCN1B SCN1A KCNQ3 KCNQ2 GABRG2 CHRNA4
6 autosomal dominant nocturnal frontal lobe epilepsy 29.8 SCN1B SCN1A KCNQ3 KCNQ2 KCNA1 GABRG2
7 autism spectrum disorder 29.7 SCN1A KCNQ3 KCNQ2 GABRG2 CHRNA4
8 febrile seizures 29.5 SCN1B SCN1A KCNQ2 GABRG2 CHRNB2
9 early myoclonic encephalopathy 29.1 SCN1B SCN1A KCNQ3 KCNQ2 KCNA1 GABRG2
10 epilepsy 29.1 SCN1B SCN1A KCNQ3 KCNQ2 KCNA1 GABRG2
11 benign familial neonatal epilepsy 28.9 SCN1B SCN1A KCNQ3 KCNQ2 KCNA1 GABRG2
12 unverricht-lundborg syndrome 28.8 SCN1B SCN1A KCNQ3 KCNQ2 GABRG2 CHRNB2
13 benign epilepsy with centrotemporal spikes 28.4 SCN1B SCN1A KCNQ3 KCNQ2 GABRG2 CHRNB2
14 generalized epilepsy with febrile seizures plus 28.4 SCN1B SCN1A KCNQ3 KCNQ2 KCNA1 GABRG2
15 epilepsy, myoclonic juvenile 28.3 SCN1B SCN1A KCNQ3 KCNQ2 KCNA1 GABRG2
16 childhood absence epilepsy 28.2 SCN1B SCN1A KCNQ3 KCNQ2 KCNA1 GABRG2
17 epilepsy, familial focal, with variable foci 2 11.2
18 epilepsy, familial focal, with variable foci 3 11.2
19 epilepsy, familial focal, with variable foci 4 11.2
20 epilepsy, nocturnal frontal lobe, 4 10.9
21 epilepsy, nocturnal frontal lobe, 5 10.9
22 epilepsy, familial focal, with variable foci 1 10.5
23 dystonia 10.5
24 ciliary dyskinesia, primary, 28 10.4
25 depdc5-related epilepsy 10.4
26 epilepsy, partial, familial 10.4
27 paroxysmal dystonia 10.4
28 immunoglobulin e concentration, serum 10.2
29 autism 10.2
30 yemenite deaf-blind hypopigmentation syndrome 10.2
31 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 10.2
32 alacrima, achalasia, and mental retardation syndrome 10.2
33 pervasive developmental disorder 10.2
34 status epilepticus 10.2
35 temporal lobe epilepsy 10.2
36 night blindness 10.2
37 47,xyy 10.2
38 kcnt1-related epilepsy 10.2
39 malignant migrating partial seizures of infancy 10.2
40 genetic epilepsy with febrile seizures plus 10.2
41 kcnq2-related disorders 10.2 KCNQ3 KCNQ2
42 seizures, benign familial neonatal, 2 10.2 KCNQ3 KCNQ2
43 convulsions benign familial neonatal dominant form 10.2 KCNQ3 KCNQ2
44 developmental and epileptic encephalopathy 7 10.1 KCNQ3 KCNQ2
45 eastern equine encephalitis 10.1 KCNQ3 KCNQ2
46 myoclonic epilepsy of infancy 10.1 SCN1A GABRG2
47 partial motor epilepsy 10.1 SCN1A KCNQ2
48 febrile seizures, familial, 11 10.1 SCN1A GABRG2
49 developmental and epileptic encephalopathy 9 10.1 SCN1A KCNQ2
50 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 10.1 KCNQ3 KCNQ2 CHRNA4

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:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 occasional (7.5%) HP:0001249
2 focal-onset seizure 31 HP:0007359

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.81 CHRNA4 CHRNB2 CRH GABRG2 KCNA1 KCNQ2
2 nervous system MP:0003631 9.65 CHRNA2 CHRNA4 CHRNB2 CRH GABRG2 KCNA1
3 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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anticonvulsants

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Transcranial Magnetic Stimulation and Anti-epileptic Effect: Optimization and Evaluation With Electrophysiology. Completed NCT00382707
2 The Rolandic Epilepsy/ESES/Landau-Kleffner Syndrome and Correlation With Language Impairment Study Completed NCT01335425
3 Co-operative Behavior and Decision-making in Frontal Lobe Epilepsy Completed NCT02441478

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:

40
Temporal Lobe, Brain

Publications for Epilepsy, Nocturnal Frontal Lobe, 1

Articles related to Epilepsy, Nocturnal Frontal Lobe, 1:

(show top 50) (show all 55)
# Title Authors PMID Year
1
A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy. 6 57 54
10563623 1999
2
Reduced striatal D1 receptor binding in autosomal dominant nocturnal frontal lobe epilepsy. 6 57
18685138 2008
3
A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation. 6 57
14623738 2003
4
Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2. 6 57
7647781 1995
5
Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene. 6 54
10448807 1999
6
Exon-intron structure of the human neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4). 54 6
8833159 1996
7
A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. 54 57
7550350 1995
8
Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation. 6
21753767 2011
9
Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. 57
9758605 1998
10
[Autosomal dominant nocturnal frontal lobe epilepsy]. 57
9773047 1998
11
Autosomal dominant nocturnal frontal lobe epilepsy: demonstration of focal frontal onset and intrafamilial variation. 57
9339675 1997
12
Alternative mechanism for pathogenesis of an inherited epilepsy by a nicotinic AChR mutation. 6
8696332 1996
13
Genetic linkage studies in familial frontal epilepsy: exclusion of the human chromosome regions homologous to the El-1 mouse locus. 57
8991790 1995
14
A discrete site for general anesthetics on a postsynaptic receptor. 6
7476881 1995
15
Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder. 57
7895015 1995
16
Refinement of the localization of the gene for neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4) to human chromosome 20q13.2-q13.3. 6
7806245 1994
17
Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder. 57
7906762 1994
18
A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1. 61 54
11094099 2000
19
Neuropsychological function in patients with a single gene mutation associated with autosomal dominant nocturnal frontal lobe epilepsy. 54
20189461 2010
20
Deletions involving both KCNQ2 and CHRNA4 present with benign familial neonatal seizures. 54
19822871 2009
21
The 1674+11C>T polymorphism of CHRNA4 is associated with juvenile myoclonic epilepsy. 54
19577488 2009
22
Pleiotropic functional effects of the first epilepsy-associated mutation in the human CHRNA2 gene. 54
19383498 2009
23
A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy. 54
19058950 2009
24
CHRNA2 mutations are rare in the NFLE population: evaluation of a large cohort of Italian patients. 54
18226955 2009
25
Compound heterozygosity with dominance in the Corticotropin Releasing Hormone (CRH) promoter in a case of nocturnal frontal lobe epilepsy. 54
18844820 2008
26
Autosomal dominant nocturnal frontal lobe epilepsy and mild memory impairment associated with CHRNB2 mutation I312M in the neuronal nicotinic acetylcholine receptor. 54
18534914 2008
27
Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore. 54
18456869 2008
28
Autosomal dominant nocturnal frontal lobe epilepsy with a mutation in the CHRNB2 gene. 54
17900292 2008
29
A major role of the nicotinic acetylcholine receptor gene CHRNA2 in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is unlikely. 54
17602836 2007
30
Association of idiopathic generalized epilepsy with polymorphisms in the neuronal nicotinic acetylcholine receptor subunits. 54
17385675 2007
31
Role of genetics in the diagnosis and treatment of epilepsy. 54
17181426 2006
32
Frontal lobe epilepsy and mutations of the corticotropin-releasing hormone gene. 54
16222669 2005
33
Evidence for a fourth locus for autosomal dominant nocturnal frontal lobe epilepsy. 61
15245761 2004
34
[Genetic background of epilepsies]. 54
15264690 2004
35
Association of the neuronal nicotinic acetylcholine receptor subunit alpha4 polymorphisms with febrile convulsions. 54
12887442 2003
36
Evidence for S284L mutation of the CHRNA4 in a white family with autosomal dominant nocturnal frontal lobe epilepsy. 54
12887446 2003
37
Genetics of epilepsy: current status and perspectives. 54
12204289 2002
38
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. 54
12195439 2002
39
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. 54
11952766 2002
40
Channelopathies can cause epilepsy in man. 54
11888238 2002
41
Molecular genetics of human familial epilepsy syndromes. 54
12383275 2002
42
Ion channels and epilepsy. 54
11579435 2001
43
Genes and mutations in idiopathic epilepsy. 54
11579434 2001
44
Failure to replicate association between the gene for the neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4) and IGE. 54
11121188 2000
45
The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. 61
11062464 2000
46
A de novo mutation in sporadic nocturnal frontal lobe epilepsy. 54
10939581 2000
47
Impact of our understanding of the genetic aetiology of epilepsy. 54
10896263 2000
48
Independent occurrence of the CHRNA4 Ser248Phe mutation in a Norwegian family with nocturnal frontal lobe epilepsy. 54
10802757 2000
49
SER252PHE and 776INS3 mutations in the CHRNA4 gene are rare in the Italian ADNFLE population. 54
10450598 1999
50
Idiopathic epilepsies with a monogenic mode of inheritance. 54
10446744 1999

Variations for Epilepsy, Nocturnal Frontal Lobe, 1

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

6 (show all 35)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHRNA4 NM_000744.7(CHRNA4):c.867_869GCT[3] (p.Leu291dup) Microsatellite Pathogenic 41030 rs281865067 GRCh37: 20:61981890-61981891
GRCh38: 20:63350538-63350539
2 CHRNA4 NM_000744.7(CHRNA4):c.878C>T (p.Thr293Ile) SNV Pathogenic 41031 rs281865066 GRCh37: 20:61981885-61981885
GRCh38: 20:63350533-63350533
3 CHRNA4 NM_000744.7(CHRNA4):c.1007G>A (p.Arg336His) SNV Pathogenic 41029 rs281865068 GRCh37: 20:61981756-61981756
GRCh38: 20:63350404-63350404
4 CHRNA4 NM_000744.7(CHRNA4):c.839C>T (p.Ser280Phe) SNV Pathogenic 17498 rs121909580 GRCh37: 20:61981924-61981924
GRCh38: 20:63350572-63350572
5 CHRNA4 CHRNA4, 3-BP INS, 776GCT Insertion Pathogenic 17499 GRCh37:
GRCh38:
6 CHRNA4 NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu) SNV Pathogenic/Likely pathogenic 17500 rs28931591 GRCh37: 20:61981912-61981912
GRCh38: 20:63350560-63350560
7 CHRNA4 NM_000744.7(CHRNA4):c.1448G>A (p.Arg483Gln) SNV Uncertain significance 205031 rs55855125 GRCh37: 20:61981315-61981315
GRCh38: 20:63349963-63349963
8 CHRNA4 NM_000744.7(CHRNA4):c.1460G>A (p.Arg487Gln) SNV Uncertain significance 98318 rs121912280 GRCh37: 20:61981303-61981303
GRCh38: 20:63349951-63349951
9 CHRNA4 NM_000744.7(CHRNA4):c.138C>T (p.Ser46=) SNV Uncertain significance 510852 rs200705061 GRCh37: 20:61990990-61990990
GRCh38: 20:63359638-63359638
10 CHRNA4 NM_000744.7(CHRNA4):c.1495G>A (p.Ala499Thr) SNV Uncertain significance 287521 rs150336658 GRCh37: 20:61981268-61981268
GRCh38: 20:63349916-63349916
11 CHRNA4 NM_000744.7(CHRNA4):c.1741G>A (p.Glu581Lys) SNV Uncertain significance 1033118 GRCh37: 20:61981022-61981022
GRCh38: 20:63349670-63349670
12 CHRNA4 NM_000744.7(CHRNA4):c.1184C>T (p.Thr395Met) SNV Uncertain significance 98307 rs121912269 GRCh37: 20:61981579-61981579
GRCh38: 20:63350227-63350227
13 CHRNA4 NM_000744.7(CHRNA4):c.799C>T (p.Leu267=) SNV Uncertain significance 98337 rs121912256 GRCh37: 20:61981964-61981964
GRCh38: 20:63350612-63350612
14 CHRNA4 NM_000744.7(CHRNA4):c.496A>T (p.Thr166Ser) SNV Uncertain significance 634555 rs1568810867 GRCh37: 20:61982267-61982267
GRCh38: 20:63350915-63350915
15 CHRNA4 NM_000744.7(CHRNA4):c.245T>C (p.Met82Thr) SNV Uncertain significance 984910 GRCh37: 20:61987751-61987751
GRCh38: 20:63356399-63356399
16 CHRNA4 NM_000744.7(CHRNA4):c.274G>C (p.Glu92Gln) SNV Uncertain significance 205043 rs146651027 GRCh37: 20:61987436-61987436
GRCh38: 20:63356084-63356084
17 CHRNA4 NM_000744.7(CHRNA4):c.1316A>C (p.Lys439Thr) SNV Uncertain significance 205026 rs796052318 GRCh37: 20:61981447-61981447
GRCh38: 20:63350095-63350095
18 CHRNA4 NM_000744.7(CHRNA4):c.1792A>G (p.Ile598Val) SNV Uncertain significance 420395 rs1019612389 GRCh37: 20:61978182-61978182
GRCh38: 20:63346830-63346830
19 CHRNA4 NM_000744.7(CHRNA4):c.1667C>G (p.Pro556Arg) SNV Uncertain significance 452325 rs77345643 GRCh37: 20:61981096-61981096
GRCh38: 20:63349744-63349744
20 CHRNA4 NM_000744.7(CHRNA4):c.1430C>T (p.Ala477Val) SNV Uncertain significance 205030 rs200243948 GRCh37: 20:61981333-61981333
GRCh38: 20:63349981-63349981
21 CHRNA4 NM_000744.7(CHRNA4):c.358C>T (p.Arg120Trp) SNV Uncertain significance 205046 rs200010568 GRCh37: 20:61987352-61987352
GRCh38: 20:63356000-63356000
22 CHRNA4 NM_000744.7(CHRNA4):c.1667C>G (p.Pro556Arg) SNV Uncertain significance 452325 rs77345643 GRCh37: 20:61981096-61981096
GRCh38: 20:63349744-63349744
23 CHRNA4 NM_000744.7(CHRNA4):c.274G>C (p.Glu92Gln) SNV Uncertain significance 205043 rs146651027 GRCh37: 20:61987436-61987436
GRCh38: 20:63356084-63356084
24 CHRNA4 NM_000744.7(CHRNA4):c.1466T>C (p.Ile489Thr) SNV Uncertain significance 996836 GRCh37: 20:61981297-61981297
GRCh38: 20:63349945-63349945
25 CHRNA4 NM_000744.7(CHRNA4):c.1029G>C (p.Trp343Cys) SNV Uncertain significance 1030886 GRCh37: 20:61981734-61981734
GRCh38: 20:63350382-63350382
26 CHRNA4 NM_000744.7(CHRNA4):c.1075A>G (p.Lys359Glu) SNV Uncertain significance 1030887 GRCh37: 20:61981688-61981688
GRCh38: 20:63350336-63350336
27 CHRNA4 NM_000744.7(CHRNA4):c.198C>A (p.Phe66Leu) SNV Uncertain significance 1030888 GRCh37: 20:61990930-61990930
GRCh38: 20:63359578-63359578
28 CHRNA4 NM_000744.7(CHRNA4):c.1106G>A (p.Arg369Gln) SNV Uncertain significance 419347 rs200007766 GRCh37: 20:61981657-61981657
GRCh38: 20:63350305-63350305
29 CHRNA4 NM_000744.7(CHRNA4):c.1418G>A (p.Ser473Asn) SNV Uncertain significance 1032458 GRCh37: 20:61981345-61981345
GRCh38: 20:63349993-63349993
30 CHRNA4 NM_000744.7(CHRNA4):c.189C>T (p.Leu63=) SNV Benign 128747 rs2273506 GRCh37: 20:61990939-61990939
GRCh38: 20:63359587-63359587
31 CHRNA4 , LOC100130587 NM_000744.7(CHRNA4):c.51G>A (p.Leu17=) SNV Benign 93430 rs79739740 GRCh37: 20:61992467-61992467
GRCh38: 20:63361115-63361115
32 CHRNA4 NM_000744.7(CHRNA4):c.1209G>T (p.Pro403=) SNV Benign 93424 rs2229959 GRCh37: 20:61981554-61981554
GRCh38: 20:63350202-63350202
33 CHRNA4 NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) SNV Benign 93425 rs2229960 GRCh37: 20:61981536-61981536
GRCh38: 20:63350184-63350184
34 CHRNA4 NM_000744.6(CHRNA4):c.1758+14A>G SNV Benign 93429 rs3827020 GRCh37: 20:61980991-61980991
GRCh38: 20:63349639-63349639
35 CHRNA4 NM_000744.7(CHRNA4):c.296G>A (p.Arg99His) SNV not provided 205045 rs143103435 GRCh37: 20:61987414-61987414
GRCh38: 20:63356062-63356062

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

72
# 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

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 membrane GO:0016020 10.27 SCN1B SCN1A KCNQ3 KCNQ2 KCNA1 GABRG2
2 integral component of membrane GO:0016021 10.13 SCN1B SCN1A KCNQ3 KCNQ2 KCNA1 GABRG2
3 plasma membrane GO:0005886 10.07 SCN1B SCN1A KCNQ3 KCNQ2 KCNA1 GABRG2
4 cell junction GO:0030054 9.92 KCNA1 GABRG2 CHRNB2 CHRNA4 CHRNA2
5 neuron projection GO:0043005 9.85 GABRG2 CHRNB2 CHRNA4 CHRNA2
6 axon GO:0030424 9.81 SCN1B SCN1A KCNA1 GABRG2
7 neuronal cell body GO:0043025 9.8 SCN1A KCNA1 CRH CHRNA4
8 integral component of plasma membrane GO:0005887 9.76 SCN1B KCNQ3 KCNQ2 KCNA1 GABRG2 CHRNB2
9 perikaryon GO:0043204 9.73 SCN1B KCNA1 CRH
10 postsynaptic membrane GO:0045211 9.71 GABRG2 CHRNB2 CHRNA4 CHRNA2
11 voltage-gated potassium channel complex GO:0008076 9.65 KCNQ3 KCNQ2 KCNA1
12 intercalated disc GO:0014704 9.58 SCN1B SCN1A
13 T-tubule GO:0030315 9.58 SCN1B SCN1A
14 synapse GO:0045202 9.56 KCNQ3 KCNQ2 KCNA1 GABRG2 CRH CHRNB2
15 voltage-gated sodium channel complex GO:0001518 9.54 SCN1B SCN1A
16 axon initial segment GO:0043194 9.5 SCN1A KCNQ3 KCNQ2
17 sodium channel complex GO:0034706 9.46 SCN1B SCN1A
18 acetylcholine-gated channel complex GO:0005892 9.43 CHRNB2 CHRNA4 CHRNA2
19 node of Ranvier GO:0033268 8.92 SCN1B SCN1A KCNQ3 KCNQ2

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.91 SCN1A KCNQ3 KCNQ2 KCNA1
2 ion transport GO:0006811 9.81 SCN1B SCN1A KCNQ3 KCNQ2 KCNA1 GABRG2
3 regulation of ion transmembrane transport GO:0034765 9.77 SCN1B SCN1A KCNQ3 KCNQ2 KCNA1
4 potassium ion transport GO:0006813 9.74 KCNQ3 KCNQ2 KCNA1
5 potassium ion transmembrane transport GO:0071805 9.73 KCNQ3 KCNQ2 KCNA1
6 regulation of membrane potential GO:0042391 9.73 SCN1A KCNA1 GABRG2 CHRNB2 CHRNA4 CHRNA2
7 regulation of postsynaptic membrane potential GO:0060078 9.72 KCNA1 GABRG2 CHRNB2 CHRNA4 CHRNA2
8 nervous system process GO:0050877 9.71 GABRG2 CHRNB2 CHRNA4 CHRNA2
9 excitatory postsynaptic potential GO:0060079 9.67 CHRNB2 CHRNA4 CHRNA2
10 response to nicotine GO:0035094 9.65 CHRNB2 CHRNA4 CHRNA2
11 synaptic transmission, cholinergic GO:0007271 9.63 CHRNB2 CHRNA4 CHRNA2
12 cognition GO:0050890 9.62 CHRNB2 CHRNA4
13 response to cocaine GO:0042220 9.62 CRH CHRNB2
14 B cell activation GO:0042113 9.61 CHRNB2 CHRNA4
15 membrane depolarization GO:0051899 9.61 SCN1B CHRNB2 CHRNA4
16 associative learning GO:0008306 9.6 CRH CHRNB2
17 neuronal action potential GO:0019228 9.59 SCN1A KCNA1
18 regulation of dopamine secretion GO:0014059 9.58 CHRNB2 CHRNA4
19 action potential GO:0001508 9.58 SCN1A CHRNA4
20 ion transmembrane transport GO:0034220 9.56 SCN1B SCN1A KCNQ3 KCNQ2 GABRG2 CHRNB2
21 cardiac muscle cell action potential involved in contraction GO:0086002 9.55 SCN1B SCN1A
22 detection of mechanical stimulus involved in sensory perception of pain GO:0050966 9.54 SCN1A KCNA1
23 neuronal action potential propagation GO:0019227 9.52 SCN1B SCN1A
24 behavioral response to nicotine GO:0035095 9.51 CHRNB2 CHRNA4
25 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:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.76 GABRG2 CHRNB2 CHRNA4 CHRNA2
2 potassium channel activity GO:0005267 9.65 KCNQ3 KCNQ2 KCNA1
3 neurotransmitter receptor activity GO:0030594 9.62 GABRG2 CHRNB2 CHRNA4 CHRNA2
4 voltage-gated potassium channel activity GO:0005249 9.61 KCNQ3 KCNQ2 KCNA1
5 delayed rectifier potassium channel activity GO:0005251 9.58 KCNQ3 KCNQ2 KCNA1
6 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.55 GABRG2 CHRNB2
7 ligand-gated ion channel activity GO:0015276 9.54 CHRNB2 CHRNA4
8 acetylcholine-gated cation-selective channel activity GO:0022848 9.54 CHRNB2 CHRNA4 CHRNA2
9 sodium channel activity GO:0005272 9.52 SCN1B SCN1A
10 voltage-gated sodium channel activity GO:0005248 9.51 SCN1B SCN1A
11 acetylcholine binding GO:0042166 9.49 CHRNB2 CHRNA4
12 extracellular ligand-gated ion channel activity GO:0005230 9.46 GABRG2 CHRNB2 CHRNA4 CHRNA2
13 acetylcholine receptor activity GO:0015464 9.43 CHRNB2 CHRNA4 CHRNA2
14 voltage-gated ion channel activity GO:0005244 9.35 SCN1B SCN1A KCNQ3 KCNQ2 KCNA1
15 ion channel activity GO:0005216 9.23 SCN1A KCNQ3 KCNQ2 KCNA1 GABRG2 CHRNB2

Sources for Epilepsy, Nocturnal Frontal Lobe, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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