ENFL
MCID: ATS011
MIFTS: 48

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ENFL)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

MalaCards integrated aliases for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy:

Name: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 12 25 20 43 58 29 6 15 71
Adnfle 25 20 43 58
Autosomal Dominant Sleep-Related Hypermotor Epilepsy 20 58
Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant 6
Epilepsy, Nocturnal Frontal Lobe, Type 1 71
Epilepsy, Nocturnal Frontal Lobe, 1 20
Enfl1 20
Enfl 12

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant nocturnal frontal lobe epilepsy
Inheritance: Autosomal dominant; Age of onset: Adolescent,Childhood; Age of death: normal life expectancy;

GeneReviews:

25
Penetrance Penetrance is estimated at 70%. kcnt1-related adnfle demonstrates complete penetrance compared to 60%-80% in nachr-related adnfle.

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0060681
UMLS via Orphanet 72 C3696898
Orphanet 58 ORPHA98784
UMLS 71 C1838049 C3696898

Summaries for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

MedlinePlus Genetics : 43 Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon form of epilepsy that runs in families. This disorder causes seizures that usually occur at night (nocturnally) while an affected person is sleeping. Some people with ADNFLE also have seizures during the day.The seizures characteristic of ADNFLE tend to occur in clusters, with each one lasting from a few seconds to a few minutes. Some people have mild seizures that simply cause them to wake up from sleep. Others have more severe episodes that can include sudden, repetitive movements such as flinging or throwing motions of the arms and bicycling movements of the legs. The person may get out of bed and wander around, which can be mistaken for sleepwalking. The person may also cry out or make moaning, gasping, or grunting sounds. These episodes are sometimes misdiagnosed as nightmares, night terrors, or panic attacks.In some types of epilepsy, including ADNFLE, a pattern of neurological symptoms called an aura often precedes a seizure. The most common symptoms associated with an aura in people with ADNFLE are tingling, shivering, a sense of fear, dizziness (vertigo), and a feeling of falling or being pushed. Some affected people have also reported a feeling of breathlessness, overly fast breathing (hyperventilation), or choking. It is unclear what brings on seizures in people with ADNFLE. Episodes may be triggered by stress or fatigue, but in most cases the seizures do not have any recognized triggers.The seizures associated with ADNFLE can begin anytime from infancy to mid-adulthood, but most begin in childhood. The episodes tend to become milder and less frequent with age. In most affected people, the seizures can be effectively controlled with medication.Most people with ADNFLE are intellectually normal, and there are no problems with their brain function between seizures. However, some people with ADNFLE have experienced psychiatric disorders (such as schizophrenia), behavioral problems, or intellectual disability. It is unclear whether these additional features are directly related to epilepsy in these individuals.

MalaCards based summary : Autosomal Dominant Nocturnal Frontal Lobe Epilepsy, also known as adnfle, is related to epilepsy, nocturnal frontal lobe, 1 and epilepsy, nocturnal frontal lobe, 2. An important gene associated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy is CHRNA2 (Cholinergic Receptor Nicotinic Alpha 2 Subunit), and among its related pathways/superpathways are Peptide ligand-binding receptors and Nanog in Mammalian ESC Pluripotency. Affiliated tissues include brain and pituitary, and related phenotypes are behavior/neurological and nervous system

Disease Ontology : 12 A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations.

GARD : 20 Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon, inherited form of epilepsy. People with ADNFLE have seizures that usually occur at night during sleep. Some people with ADNFLE also have seizures during the day. These seizures can last from a few seconds to a few minutes, and can vary from causing simple arousal from sleep, to dramatic muscle spasms and movements. The onset of ADNFLE ranges from infancy to adulthood, but most cases begin in childhood. Episodes tend to become milder and less frequent with age. It is diagnosed based on symptoms and the results of tests such as an EEG. ADNFLE is inherited in an autosomal dominant manner and may be caused by a mutation in any of several genes. In most cases however, the genetic cause is not found. Seizures can usually be controlled with anti-seizure medications.

Wikipedia : 74 Autosomal dominant nocturnal frontal lobe epilepsy is an epileptic disorder that causes frequent violent... more...

GeneReviews: NBK1169

Related Diseases for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Diseases in the Autosomal Dominant Nocturnal Frontal Lobe Epilepsy family:

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

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

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 epilepsy, nocturnal frontal lobe, 1 33.6 KCNQ3 KCNQ2 CRH CHRNB2 CHRNA4 CHRNA2
2 epilepsy, nocturnal frontal lobe, 2 33.5 CHRNB2 CHRNA4
3 epilepsy, nocturnal frontal lobe, 3 33.5 CHRNB2 CHRNA4
4 epilepsy, nocturnal frontal lobe, 5 33.3 SPAG1 KCNT1
5 epilepsy 31.9 KCNT1 KCNQ3 KCNQ2 DEPDC5 CRH CHRNB2
6 focal epilepsy 31.9 KCNT1 DEPDC5 CHRNB2 CHRNA4 CHRNA2
7 seizure disorder 31.5 KCNQ3 KCNQ2 DEPDC5 CHRNA4 CHRNA2
8 early myoclonic encephalopathy 31.2 KCNT1 KCNQ3 KCNQ2 CHRNA4
9 benign familial neonatal epilepsy 31.0 KCNQ3 KCNQ2 CHRNA4
10 unverricht-lundborg syndrome 30.9 KCNQ3 KCNQ2 CHRNB2 CHRNA4 CHRNA2
11 generalized epilepsy with febrile seizures plus 30.8 KCNT1 KCNQ3 KCNQ2 DEPDC5 CHRNB2 CHRNB1
12 epilepsy, myoclonic juvenile 30.8 KCNT1 KCNQ3 KCNQ2 DEPDC5 CHRNB2 CHRNA7
13 developmental and epileptic encephalopathy 14 30.5 KCNT1 DEPDC5 CHRNA4
14 epilepsy, nocturnal frontal lobe, 4 11.8
15 reflex epilepsy 10.5 CHRNB2 CHRNA4 CHRNA2
16 epilepsy, familial focal, with variable foci 1 10.5
17 dystonia 10.5
18 juvenile absence epilepsy 10.5 CHRNB2 CHRNA7 CHRNA4
19 partial motor epilepsy 10.5 KCNT1 KCNQ2 DEPDC5
20 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 10.4 KCNQ3 KCNQ2 CHRNA4
21 acth deficiency, isolated 10.4 TBX19 RPE65 CRH
22 developmental and epileptic encephalopathy 7 10.4 KCNT1 KCNQ3 KCNQ2
23 leber congenital amaurosis / early-onset severe retinal dystrophy 10.4 RPE65 CABP4
24 kcnq2-related disorders 10.4 KCNQ3 KCNQ2
25 drug dependence 10.4 CRH CHRNB3 CHRNA6 CHRNA2
26 infancy electroclinical syndrome 10.4 KCNT1 KCNQ3 KCNQ2
27 ectopic cushing syndrome 10.4 TBX19 CRH
28 adolescence-adult electroclinical syndrome 10.4 KCNQ3 KCNQ2 CHRNA7 CHRNA4
29 smoking as a quantitative trait locus 3 10.4 CHRNA5 CHRNA3
30 episodic kinesigenic dyskinesia 1 10.4 KCNQ3 KCNQ2 CHRNA4
31 ciliary dyskinesia, primary, 28 10.4
32 depdc5-related epilepsy 10.4
33 epilepsy, partial, familial 10.4
34 paroxysmal dystonia 10.4
35 cocaine dependence 10.4 CHRNB3 CHRNA5 CHRNA3
36 childhood electroclinical syndrome 10.4 KCNT1 KCNQ3 KCNQ2 DEPDC5 CHRNA4
37 electroclinical syndrome 10.4 KCNT1 KCNQ3 KCNQ2 DEPDC5 CHRNA4
38 neonatal period electroclinical syndrome 10.4 KCNT1 KCNQ3 KCNQ2 DEPDC5 CHRNA4
39 bartter syndrome, type 4a, neonatal, with sensorineural deafness 10.4 KCNT1 CHRNA2
40 early onset absence epilepsy 10.4 KCNQ3 KCNQ2 DEPDC5 CHRNB2 CHRNA4 CHRNA2
41 benign neonatal seizures 10.4 KCNT1 KCNQ3 KCNQ2 CHRNB2 CHRNA4 CHRNA2
42 seizures, benign familial neonatal, 2 10.4 KCNQ3 KCNQ2
43 lennox-gastaut syndrome 10.4 KCNT1 KCNQ3 KCNQ2 DEPDC5 CHRNB2 CHRNA4
44 west syndrome 10.4 KCNT1 KCNQ3 KCNQ2 DEPDC5 CRH
45 convulsions benign familial neonatal dominant form 10.4 KCNQ3 KCNQ2
46 alcohol dependence 10.4 CRH CHRNB3 CHRNA6 CHRNA5 CHRNA3
47 substance dependence 10.3 CRH CHRNB3 CHRNB2 CHRNA6 CHRNA5 CHRNA4
48 dravet syndrome 10.3 KCNT1 KCNQ3 KCNQ2 DEPDC5 CHRNB2 CHRNA4
49 febrile seizures, familial, 1 10.3 KCNQ3 CHRNA4
50 benign familial infantile epilepsy 10.3 KCNT1 KCNQ3 KCNQ2 DEPDC5 CHRNB2 CHRNA7

Graphical network of the top 20 diseases related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy:



Diseases related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Symptoms & Phenotypes for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

MGI Mouse Phenotypes related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 CHRNA3 CHRNA4 CHRNA5 CHRNA7 CHRNB2 CHRNB3
2 nervous system MP:0003631 9.53 CABP4 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNA6

Drugs & Therapeutics for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Genetic Tests for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Genetic tests related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy:

# Genetic test Affiliating Genes
1 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 29

Anatomical Context for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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

40
Brain, Pituitary

Publications for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Articles related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy:

(show top 50) (show all 248)
# Title Authors PMID Year
1
Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function. 6 25 61
25770198 2015
2
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. 61 25 6
23086396 2012
3
Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation. 25 61 6
21753767 2011
4
A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation. 25 6 61
14623738 2003
5
CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. 6 61 25
11104662 2001
6
The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. 25 6 61
11062464 2000
7
A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy. 25 6 61
10563623 1999
8
Exon-intron structure of the human neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4). 25 6 61
8833159 1996
9
Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. 6 25
16826524 2006
10
Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability. 61 6
18479385 2008
11
Reduced striatal D1 receptor binding in autosomal dominant nocturnal frontal lobe epilepsy. 61 6
18685138 2008
12
A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1. 61 6
11094099 2000
13
Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene. 61 6
10448807 1999
14
Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2. 61 6
7647781 1995
15
Rationale for an adjunctive therapy with fenofibrate in pharmacoresistant nocturnal frontal lobe epilepsy. 25 61
28766701 2017
16
Mutation of CHRNA2 in a family with benign familial infantile seizures: Potential role of nicotinic acetylcholine receptor in various phenotypes of epilepsy. 25 61
25847220 2015
17
DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy. 61 25
24814846 2014
18
KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine. 61 25
24591078 2014
19
Genetic heterogeneity in familial nocturnal frontal lobe epilepsy. 61 25
25194481 2014
20
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. 6
24055112 2013
21
Functional characterization of a CRH missense mutation identified in an ADNFLE family. 61 25
23593457 2013
22
Nocturnal frontal lobe epilepsy and the acetylcholine receptor. 25 61
23114665 2012
23
Mutations in familial nocturnal frontal lobe epilepsy might be associated with distinct neurological phenotypes. 25 61
22036597 2012
24
Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations. 6
22170728 2012
25
The identification of a novel mutation of nicotinic acetylcholine receptor gene CHRNB2 in a Chinese patient: Its possible implication in non-familial nocturnal frontal lobe epilepsy. 61 25
21497487 2011
26
Effect of carbamazepine and oxcarbazepine on wild-type and mutant neuronal nicotinic acetylcholine receptors linked to nocturnal frontal lobe epilepsy. 61 25
20561518 2010
27
Malignant autosomal dominant frontal lobe epilepsy with repeated episodes of status epilepticus: successful treatment with vagal nerve stimulation. 61 25
20478764 2010
28
Neuropsychological function in patients with a single gene mutation associated with autosomal dominant nocturnal frontal lobe epilepsy. 61 25
20189461 2010
29
Pleiotropic functional effects of the first epilepsy-associated mutation in the human CHRNA2 gene. 25 61
19383498 2009
30
A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy. 61 25
19058950 2009
31
Neuropsychological disturbances in frontal lobe epilepsy due to mutated nicotinic receptors. 25 61
19059498 2009
32
K-complex-induced seizures in autosomal dominant nocturnal frontal lobe epilepsy. 25 61
18762450 2008
33
The TPIT gene mutation M86R associated with isolated adrenocorticotropin deficiency interferes with protein: protein interactions. 6
17652218 2007
34
Frontal lobe epilepsy and mutations of the corticotropin-releasing hormone gene. 61 25
16222669 2005
35
Recent advances on autosomal dominant nocturnal frontal lobe epilepsy: "understanding the nicotinic acetylcholine receptor (nAChR)". 61 25
15843070 2005
36
TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency. 6
15476446 2004
37
Autosomal dominant nocturnal frontal lobe epilepsy--a critical overview. 61 25
15316796 2004
38
Evidence for S284L mutation of the CHRNA4 in a white family with autosomal dominant nocturnal frontal lobe epilepsy. 61 25
12887446 2003
39
Schizophrenia, psychotic illness and other psychiatric symptoms in families with autosomal dominant nocturnal frontal lobe epilepsy caused by different mutations. 61 25
12782965 2003
40
A pituitary cell-restricted T box factor, Tpit, activates POMC transcription in cooperation with Pitx homeoproteins. 6
11290323 2001
41
A de novo mutation in sporadic nocturnal frontal lobe epilepsy. 61 25
10939581 2000
42
Dominant partial epilepsies. A clinical, electrophysiological and genetic study of 19 European families. 61 25
10825362 2000
43
Independent occurrence of the CHRNA4 Ser248Phe mutation in a Norwegian family with nocturnal frontal lobe epilepsy. 61 25
10802757 2000
44
Electroclinical picture of autosomal dominant nocturnal frontal lobe epilepsy in a Japanese family. 61 25
10643924 2000
45
Mutated nicotinic receptors responsible for autosomal dominant nocturnal frontal lobe epilepsy are more sensitive to carbamazepine. 61 25
10487182 1999
46
SER252PHE and 776INS3 mutations in the CHRNA4 gene are rare in the Italian ADNFLE population. 25 61
10450598 1999
47
Neuronal nicotinic acetylcholine receptors: their properties and alterations in autosomal dominant nocturnal frontal lobe epilepsy. 61 25
10472659 1999
48
Autosomal dominant nocturnal frontal lobe epilepsy: an electroclinical study of a Norwegian family with ten affected members. 61 25
9924907 1999
49
Two mutations linked to nocturnal frontal lobe epilepsy cause use-dependent potentiation of the nicotinic ACh response. 61 25
9824708 1998
50
A family with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation. 61 25
9840354 1998

Variations for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

ClinVar genetic disease variations for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy:

6 (show top 50) (show all 1293)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CHRNB2 NM_000748.3(CHRNB2):c.859G>C (p.Val287Leu) SNV Pathogenic 17495 rs74315291 1:154544158-154544158 1:154571682-154571682
2 CHRNA4 CHRNA4, 3-BP INS, 776GCT Insertion Pathogenic 17499
3 CHRNA2 NM_000742.4(CHRNA2):c.836T>A (p.Ile279Asn) SNV Pathogenic 17504 rs104894063 8:27321124-27321124 8:27463607-27463607
4 CHRNB2 NM_000748.3(CHRNB2):c.1010T>G (p.Val337Gly) SNV Pathogenic 41032 rs281865072 1:154544309-154544309 1:154571833-154571833
5 CHRNB2 NM_000748.3(CHRNB2):c.859G>T (p.Val287Leu) SNV Pathogenic 41033 rs74315291 1:154544158-154544158 1:154571682-154571682
6 CHRNB2 NM_000748.3(CHRNB2):c.901C>G (p.Leu301Val) SNV Pathogenic 41034 rs281865069 1:154544200-154544200 1:154571724-154571724
7 CHRNB2 NM_000748.3(CHRNB2):c.923T>C (p.Val308Ala) SNV Pathogenic 41035 rs281865070 1:154544222-154544222 1:154571746-154571746
8 CHRNB2 NM_000748.3(CHRNB2):c.936C>G (p.Ile312Met) SNV Pathogenic 41036 rs281865071 1:154544235-154544235 1:154571759-154571759
9 CHRNA2 NM_000742.4(CHRNA2):c.889A>T (p.Ile297Phe) SNV Pathogenic 522582 rs1554514507 8:27321071-27321071 8:27463554-27463554
10 CHRNA4 NM_000744.7(CHRNA4):c.867_869GCT[3] (p.Leu291dup) Microsatellite Pathogenic 41030 rs281865067 20:61981890-61981891 20:63350538-63350539
11 CHRNA4 NM_000744.7(CHRNA4):c.878C>T (p.Thr293Ile) SNV Pathogenic 41031 rs281865066 20:61981885-61981885 20:63350533-63350533
12 TBX19 NM_005149.3(TBX19):c.856C>T (p.Arg286Ter) SNV Pathogenic 5440 rs74315376 1:168274374-168274374 1:168305136-168305136
13 TBX19 NM_005149.3(TBX19):c.383C>T (p.Ser128Phe) SNV Pathogenic 5441 rs74315377 1:168260577-168260577 1:168291339-168291339
14 TBX19 NM_005149.3(TBX19):c.257T>G (p.Met86Arg) SNV Pathogenic 5442 rs74315378 1:168260451-168260451 1:168291213-168291213
15 TBX19 NM_005149.3(TBX19):c.782del (p.Asn261fs) Deletion Pathogenic 5443 rs730880274 1:168274299-168274299 1:168305061-168305061
16 TBX19 NM_005149.3(TBX19):c.568C>T (p.Gln190Ter) SNV Pathogenic 488619 rs1553289042 1:168262481-168262481 1:168293243-168293243
17 TBX19 K146R Variation Pathogenic 495297
18 TBX19 NM_005149.3(TBX19):c.156_157GA[1] (p.Arg53fs) Microsatellite Pathogenic 560672 rs763818059 1:168250483-168250484 1:168281245-168281246
19 TBX19 NM_005149.3(TBX19):c.265del (p.Leu89fs) Deletion Pathogenic 560673 rs1558190339 1:168260457-168260457 1:168291219-168291219
20 TBX19 NM_005149.3(TBX19):c.665+1del Deletion Pathogenic 560675 rs1558192351 1:168267023-168267023 1:168297785-168297785
21 TBX19 NM_005149.3(TBX19):c.627C>G (p.Tyr209Ter) SNV Pathogenic 561125 rs140528998 1:168266985-168266985 1:168297747-168297747
22 SPAG1 NM_003114.4(SPAG1):c.679G>T (p.Glu227Ter) SNV Pathogenic 88682 rs397518459 8:101196939-101196939 8:100184711-100184711
23 SPAG1 NM_172218.2(SPAG1):c.2542del (p.Asp848fs) Deletion Pathogenic 88684 rs886037653 8:101252889-101252889 8:100240661-100240661
24 KCNT1 NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln) SNV Pathogenic 39593 9:138657552-138657552 9:135765706-135765706
25 KCNT1 NM_020822.3(KCNT1):c.2687T>G (p.Met896Arg) SNV Pathogenic 412308 rs1060503696 9:138670626-138670626 9:135778780-135778780
26 KCNT1 NM_020822.3(KCNT1):c.2849G>T (p.Arg950Leu) SNV Pathogenic 473378 rs886043455 9:138675877-138675877 9:135784031-135784031
27 KCNT1 NM_020822.3(KCNT1):c.1421G>A (p.Arg474His) SNV Pathogenic 39595 9:138660694-138660694 9:135768848-135768848
28 KCNT1 NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser) SNV Pathogenic 126421 rs587777264 9:138651532-138651532 9:135759686-135759686
29 KCNT1 NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln) SNV Pathogenic 286710 9:138675877-138675877 9:135784031-135784031
30 RPE65 NM_000329.3(RPE65):c.825C>G (p.Tyr275Ter) SNV Pathogenic 587393 rs988133284 1:68904907-68904907 1:68439224-68439224
31 KCNT1 NM_020822.3(KCNT1):c.2800G>A (p.Ala934Thr) SNV Pathogenic 39594 rs397515403 9:138671275-138671275 9:135779429-135779429
32 KCNT1 NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln) SNV Pathogenic 39593 9:138657552-138657552 9:135765706-135765706
33 KCNT1 NM_020822.3(KCNT1):c.1420C>T (p.Arg474Cys) SNV Pathogenic 265210 rs866242631 9:138660693-138660693 9:135768847-135768847
34 KCNT1 NM_020822.3(KCNT1):c.2717A>G (p.Gln906Arg) SNV Pathogenic 655949 rs1588385233 9:138670656-138670656 9:135778810-135778810
35 KCNT1 NM_020822.3(KCNT1):c.2943+1G>C SNV Pathogenic 853172 9:138675972-138675972 9:135784126-135784126
36 KCNT1 NM_020822.3(KCNT1):c.1038C>G (p.Phe346Leu) SNV Pathogenic 853550 9:138656879-138656879 9:135765033-135765033
37 KCNT1 NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln) SNV Pathogenic 432096 rs1554771469 9:138650285-138650285 9:135758439-135758439
38 CHRNA4 NM_000744.7(CHRNA4):c.1007G>A (p.Arg336His) SNV Pathogenic 41029 rs281865068 20:61981756-61981756 20:63350404-63350404
39 CRH NM_000756.3(CRH):c.-365G>C SNV Pathogenic 41037 rs72556399 8:67090878-67090878 8:66178643-66178643
40 CRH NM_000756.3(CRH):c.-669C>A SNV Pathogenic 38800 rs12721510 8:67091182-67091182 8:66178947-66178947
41 KCNT1 NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser) SNV Pathogenic 126421 rs587777264 9:138651532-138651532 9:135759686-135759686
42 CHRNB2 NM_000748.3(CHRNB2):c.859G>A (p.Val287Met) SNV Pathogenic 17496 rs74315291 1:154544158-154544158 1:154571682-154571682
43 CHRNA4 NM_000744.7(CHRNA4):c.839C>T (p.Ser280Phe) SNV Pathogenic 17498 rs121909580 20:61981924-61981924 20:63350572-63350572
44 CHRNA4 NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu) SNV Pathogenic 17500 rs28931591 20:61981912-61981912 20:63350560-63350560
45 CHRNA4 NM_000744.7(CHRNA4):c.839C>T (p.Ser280Phe) SNV Pathogenic 17498 rs121909580 20:61981924-61981924 20:63350572-63350572
46 CHRNB2 NM_000748.3(CHRNB2):c.859G>A (p.Val287Met) SNV Pathogenic 17496 rs74315291 1:154544158-154544158 1:154571682-154571682
47 DEPDC5 NM_001242896.3(DEPDC5):c.3709del (p.Glu1237fs) Deletion Pathogenic 873407 22:32272155-32272155 22:31876169-31876169
48 KCNT1 NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys) SNV Pathogenic 39597 rs397515405 9:138671257-138671257 9:135779411-135779411
49 KCNT1 NM_020822.3(KCNT1):c.2386T>C (p.Tyr796His) SNV Pathogenic 39598 rs397515406 9:138669220-138669220 9:135777374-135777374
50 SPAG1 NM_172218.2(SPAG1):c.2014C>T (p.Gln672Ter) SNV Pathogenic 88683 rs201740530 8:101245664-101245664 8:100233436-100233436

Copy number variations for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 20072 1 15300000 153300000 Copy number CHRNB2 Autosomal dominant nocturnal frontal lobe epilepsy
2 155269 20 54400000 62435964 Copy number CHRNA4 Autosomal dominant nocturnal frontal lobe epilepsy

Expression for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Search GEO for disease gene expression data for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy.

Pathways for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.39 CRH CHRNB3 CHRNB2 CHRNB1 CHRNA7 CHRNA6
2
Show member pathways
13.07 CHRNB3 CHRNB2 CHRNB1 CHRNA7 CHRNA6 CHRNA5
3
Show member pathways
12.54 KCNQ3 KCNQ2 CHRNB2 CHRNA7 CHRNA6 CHRNA4
4
Show member pathways
12.51 KCNQ3 KCNQ2 CHRNB3 CHRNB2 CHRNA7 CHRNA6
5 11.94 CHRNB2 CHRNA7 CHRNA4 CHRFAM7A
6
Show member pathways
11.56 CHRNB2 CHRNA6 CHRNA5 CHRNA4 CHRNA3
7 11.16 CHRNB2 CHRNA7 CHRNA6 CHRNA4
8
Show member pathways
11.13 CHRNB3 CHRNB2 CHRNA7 CHRNA6 CHRNA5 CHRNA4

GO Terms for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Cellular components related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.39 RPE65 KCNT1 KCNQ3 KCNQ2 DEPDC5 CHRNB3
2 integral component of membrane GO:0016021 10.28 KCNT1 KCNQ3 KCNQ2 DEPDC5 CHRNB3 CHRNB2
3 plasma membrane GO:0005886 10.27 RPE65 KCNT1 KCNQ3 KCNQ2 CHRNB3 CHRNB2
4 integral component of plasma membrane GO:0005887 10.1 KCNQ3 KCNQ2 CHRNB3 CHRNB2 CHRNB1 CHRNA7
5 cell junction GO:0030054 10.07 CHRNB3 CHRNB2 CHRNB1 CHRNA7 CHRNA6 CHRNA5
6 neuron projection GO:0043005 9.96 CHRNB3 CHRNB2 CHRNB1 CHRNA7 CHRNA6 CHRNA5
7 postsynaptic membrane GO:0045211 9.81 CHRNB3 CHRNB2 CHRNB1 CHRNA7 CHRNA6 CHRNA5
8 acetylcholine-gated channel complex GO:0005892 9.65 CHRNB3 CHRNB2 CHRNB1 CHRNA7 CHRNA6 CHRNA5
9 plasma membrane raft GO:0044853 9.58 CHRNB2 CHRNA7 CHRNA3
10 integral component of postsynaptic specialization membrane GO:0099060 9.52 CHRNB2 CHRNB1
11 axon initial segment GO:0043194 9.49 KCNQ3 KCNQ2
12 node of Ranvier GO:0033268 9.48 KCNQ3 KCNQ2
13 synapse GO:0045202 9.47 KCNQ3 KCNQ2 CRH CHRNB3 CHRNB2 CHRNB1

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.29 CRH CHRNB3 CHRNB2 CHRNB1 CHRNA7 CHRNA6
2 ion transport GO:0006811 10.25 KCNT1 KCNQ3 KCNQ2 CHRNB3 CHRNB2 CHRNB1
3 excitatory postsynaptic potential GO:0060079 10.07 CHRNB3 CHRNB2 CHRNB1 CHRNA7 CHRNA6 CHRNA5
4 regulation of postsynaptic membrane potential GO:0060078 10.06 CHRNB3 CHRNB2 CHRNB1 CHRNA7 CHRNA6 CHRNA5
5 nervous system process GO:0050877 10.02 CHRNB3 CHRNB2 CHRNB1 CHRNA7 CHRNA6 CHRNA5
6 regulation of membrane potential GO:0042391 9.96 CHRNB3 CHRNB2 CHRNB1 CHRNA7 CHRNA6 CHRNA5
7 response to nicotine GO:0035094 9.95 CHRNB3 CHRNB2 CHRNA7 CHRNA5 CHRNA4 CHRNA2
8 behavioral response to nicotine GO:0035095 9.85 CHRNB2 CHRNB1 CHRNA5 CHRNA4 CHRNA3
9 synaptic transmission, cholinergic GO:0007271 9.85 CHRNB3 CHRNB2 CHRNB1 CHRNA7 CHRNA6 CHRNA5
10 potassium ion transport GO:0006813 9.77 KCNT1 KCNQ3 KCNQ2
11 potassium ion transmembrane transport GO:0071805 9.76 KCNT1 KCNQ3 KCNQ2
12 calcium ion transport GO:0006816 9.75 CHRNB2 CHRNA7 CHRNA4
13 ion transmembrane transport GO:0034220 9.73 KCNQ3 KCNQ2 CHRNB3 CHRNB2 CHRNB1 CHRNA7
14 cognition GO:0050890 9.72 CHRNB2 CHRNA7 CHRNA4
15 acetylcholine receptor signaling pathway GO:0095500 9.7 CHRNB2 CHRNA7 CHRNA3
16 response to acetylcholine GO:1905144 9.67 CHRNB2 CHRNA7 CHRNA3
17 regulation of dendrite morphogenesis GO:0048814 9.57 CHRNB2 CHRNA3
18 membrane depolarization GO:0051899 9.56 CHRNB2 CHRNA4
19 synaptic transmission involved in micturition GO:0060084 9.54 CHRNB2 CHRNA3
20 chemical synaptic transmission GO:0007268 9.44 KCNQ3 KCNQ2 CRH CHRNB3 CHRNB2 CHRNB1

Molecular functions related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 10.1 CHRNB3 CHRNB2 CHRNB1 CHRNA7 CHRNA6 CHRNA5
2 acetylcholine-gated cation-selective channel activity GO:0022848 9.97 CHRNB3 CHRNB2 CHRNB1 CHRNA7 CHRNA6 CHRNA5
3 neurotransmitter receptor activity GO:0030594 9.96 CHRNB3 CHRNB2 CHRNB1 CHRNA7 CHRNA6 CHRNA5
4 acetylcholine binding GO:0042166 9.91 CHRNB3 CHRNB2 CHRNB1 CHRNA7 CHRNA4 CHRNA3
5 acetylcholine receptor activity GO:0015464 9.85 CHRNB3 CHRNB2 CHRNB1 CHRNA7 CHRNA6 CHRNA5
6 ligand-gated ion channel activity GO:0015276 9.83 CHRNB2 CHRNB1 CHRNA5 CHRNA4 CHRNA3
7 extracellular ligand-gated ion channel activity GO:0005230 9.65 CHRNB3 CHRNB2 CHRNB1 CHRNA7 CHRNA6 CHRNA5
8 potassium channel activity GO:0005267 9.63 KCNT1 KCNQ3 KCNQ2
9 ion channel activity GO:0005216 9.4 KCNQ3 KCNQ2 CHRNB3 CHRNB2 CHRNB1 CHRNA7

Sources for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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