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 24 52 25 58 29 6 15 71
Adnfle 24 52 25 58
Autosomal Dominant Sleep-Related Hypermotor Epilepsy 52 58
Epilepsy, Nocturnal Frontal Lobe, Type 1 71
Epilepsy, Nocturnal Frontal Lobe, 1 52
Enfl1 52
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:

24
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

Genetics Home Reference : 25 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, 2 and epilepsy, nocturnal frontal lobe, 3. An important gene associated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy is CHRNA4 (Cholinergic Receptor Nicotinic Alpha 4 Subunit), and among its related pathways/superpathways are Peptide ligand-binding receptors and Nanog in Mammalian ESC Pluripotency. Affiliated tissues include brain and testes, and related phenotypes are Resistant to vaccinia virus (VACV-A4L) infection and behavior/neurological

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.

NIH Rare Diseases : 52 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.

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 82)
# Related Disease Score Top Affiliating Genes
1 epilepsy, nocturnal frontal lobe, 2 34.8 CHRNB2 CHRNA4
2 epilepsy, nocturnal frontal lobe, 3 34.7 CHRNB2 CHRNA4
3 epilepsy, nocturnal frontal lobe, 1 34.6 SCN1A KCNQ3 KCNQ2 CRH CHRNB2 CHRNA4
4 seizure disorder 31.6 SCN1A KCNQ2
5 focal epilepsy 31.4 SCN1A LGI1 KCNT1 KCNQ3 KCNQ2 DEPDC5
6 epilepsy 31.4 SCN1A LGI1 KCNT1 KCNQ3 KCNQ2 EFHC1
7 visual epilepsy 31.3 SCN1A KCNQ2 DEPDC5 CHRNA4
8 febrile seizures 31.2 SCN1A KCNQ2 CHRNB2
9 early myoclonic encephalopathy 31.0 SCN1A KCNT1 KCNQ3 KCNQ2 EFHC1 CHRNA4
10 unverricht-lundborg syndrome 31.0 KCNQ3 EFHC1 CHRNB2 CHRNA4 CHRNA2
11 epileptic encephalopathy, early infantile, 14 30.9 SCN1A KCNT1 DEPDC5 CHRNA4
12 pervasive developmental disorder 30.9 SCN1A KCNQ2 CRH CHRNA7
13 status epilepticus 30.8 SCN1A LGI1 KCNQ2
14 malignant migrating partial seizures of infancy 30.8 SCN1A KCNT1
15 benign neonatal seizures 30.7 SCN1A KCNQ3 KCNQ2 EFHC1 CHRNB2 CHRNA4
16 epilepsy, myoclonic juvenile 30.4 SCN1A LGI1 KCNQ3 KCNQ2 EFHC1 DEPDC5
17 generalized epilepsy with febrile seizures plus 30.3 SCN1A LGI1 KCNT1 KCNQ3 KCNQ2 EFHC1
18 epilepsy, nocturnal frontal lobe, 5 12.5
19 epilepsy, nocturnal frontal lobe, 4 12.5
20 autosomal dominant epilepsy with auditory features 10.6 LGI1 DEPDC5
21 kcnq2-related disorders 10.6 KCNQ3 KCNQ2
22 smoking as a quantitative trait locus 3 10.5 CHRNA5 CHRNA3
23 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 10.5 KCNQ3 KCNQ2 CHRNA4
24 epileptic encephalopathy, early infantile, 7 10.5 KCNT1 KCNQ3 KCNQ2
25 seizures, benign familial neonatal, 2 10.5 KCNQ3 KCNQ2
26 bartter syndrome, type 4a, neonatal, with sensorineural deafness 10.5 CHRNB2 CHRNA2
27 landau-kleffner syndrome 10.5 SCN1A KCNT1 KCNQ2
28 epilepsy, familial temporal lobe, 3 10.5 LGI1 DEPDC5
29 epileptic encephalopathy, early infantile, 9 10.5 SCN1A KCNT1 KCNQ2
30 cocaine dependence 10.5 CHRNB3 CHRNA5 CHRNA3
31 drug dependence 10.5 CRH CHRNB3 CHRNA6 CHRNA2
32 febrile seizures, familial, 2 10.5 SCN1A KCNQ3 EFHC1
33 juvenile absence epilepsy 10.5 SCN1A EFHC1 CHRNB2 CHRNA4
34 benign familial neonatal epilepsy 10.5 SCN1A KCNQ3 KCNQ2
35 episodic ataxia, type 1 10.5 SCN1A KCNQ3 KCNQ2
36 epilepsy, familial temporal lobe, 1 10.5 LGI1 EFHC1 CHRNB2 CHRNA2
37 febrile seizures, familial, 1 10.5 SCN1A KCNQ3 EFHC1 CHRNA4
38 epilepsy, familial focal, with variable foci 1 10.5
39 dystonia 10.5
40 infancy electroclinical syndrome 10.5 SCN1A KCNT1 KCNQ3 KCNQ2
41 reflex epilepsy 10.4 SCN1A LGI1 CHRNB2 CHRNA4 CHRNA2
42 familial febrile seizures 10.4 SCN1A EFHC1 CHRNA4
43 photosensitive epilepsy 10.4 SCN1A KCNQ3 KCNQ2 EFHC1
44 cortical deafness 10.4 LGI1 KCNT1
45 partial motor epilepsy 10.4 SCN1A LGI1 KCNT1 KCNQ2 DEPDC5
46 episodic ataxia 10.4 SCN1A LGI1 KCNQ3 KCNQ2
47 depdc5-related epilepsy 10.4
48 epilepsy, partial, familial 10.4
49 paroxysmal dystonia 10.4
50 alcohol dependence 10.4 CRH CHRNB3 CHRNA6 CHRNA5 CHRNA4 CHRNA3

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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 9.17 CHRFAM7A CHRNB1 CHRNB3 CRH EFHC1 KCNQ2

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 CHRNA3 CHRNA4 CHRNA5 CHRNA7 CHRNB2 CHRNB3
2 nervous system MP:0003631 9.55 CABP4 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNA6

Drugs & Therapeutics for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 PET Study of the Nicotinic System in Epilepsy Completed NCT03268369
2 PET Study of the Nicotinic Receptors in Human : Brain Distribution and Quantification Terminated NCT00543322

Search 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, Testes

Publications for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Articles related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy:

(show top 50) (show all 241)
# Title Authors PMID Year
1
Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function. 6 24 61
25770198 2015
2
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. 6 24 61
23086396 2012
3
Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation. 24 6 61
21753767 2011
4
A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation. 6 24 61
14623738 2003
5
CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. 61 24 6
11104662 2001
6
The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. 6 24 61
11062464 2000
7
A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy. 24 6 61
10563623 1999
8
Exon-intron structure of the human neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4). 6 61 24
8833159 1996
9
Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. 24 6
16826524 2006
10
KCNT1-Related Epilepsy 61 6
30234941 2018
11
Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability. 61 6
18479385 2008
12
Reduced striatal D1 receptor binding in autosomal dominant nocturnal frontal lobe epilepsy. 61 6
18685138 2008
13
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 6 61
20301348 2002
14
A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1. 61 6
11094099 2000
15
Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene. 6 61
10448807 1999
16
Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2. 61 6
7647781 1995
17
Rationale for an adjunctive therapy with fenofibrate in pharmacoresistant nocturnal frontal lobe epilepsy. 61 24
28766701 2017
18
Mutation of CHRNA2 in a family with benign familial infantile seizures: Potential role of nicotinic acetylcholine receptor in various phenotypes of epilepsy. 24 61
25847220 2015
19
DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy. 24 61
24814846 2014
20
KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine. 24 61
24591078 2014
21
Genetic heterogeneity in familial nocturnal frontal lobe epilepsy. 61 24
25194481 2014
22
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. 6
24055112 2013
23
Functional characterization of a CRH missense mutation identified in an ADNFLE family. 61 24
23593457 2013
24
Nocturnal frontal lobe epilepsy and the acetylcholine receptor. 24 61
23114665 2012
25
Mutations in familial nocturnal frontal lobe epilepsy might be associated with distinct neurological phenotypes. 61 24
22036597 2012
26
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 24
21497487 2011
27
Effect of carbamazepine and oxcarbazepine on wild-type and mutant neuronal nicotinic acetylcholine receptors linked to nocturnal frontal lobe epilepsy. 61 24
20561518 2010
28
Malignant autosomal dominant frontal lobe epilepsy with repeated episodes of status epilepticus: successful treatment with vagal nerve stimulation. 61 24
20478764 2010
29
Neuropsychological function in patients with a single gene mutation associated with autosomal dominant nocturnal frontal lobe epilepsy. 24 61
20189461 2010
30
Pleiotropic functional effects of the first epilepsy-associated mutation in the human CHRNA2 gene. 24 61
19383498 2009
31
Neuropsychological disturbances in frontal lobe epilepsy due to mutated nicotinic receptors. 24 61
19059498 2009
32
A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy. 61 24
19058950 2009
33
K-complex-induced seizures in autosomal dominant nocturnal frontal lobe epilepsy. 24 61
18762450 2008
34
Frontal lobe epilepsy and mutations of the corticotropin-releasing hormone gene. 24 61
16222669 2005
35
Recent advances on autosomal dominant nocturnal frontal lobe epilepsy: "understanding the nicotinic acetylcholine receptor (nAChR)". 61 24
15843070 2005
36
Autosomal dominant nocturnal frontal lobe epilepsy--a critical overview. 24 61
15316796 2004
37
Evidence for S284L mutation of the CHRNA4 in a white family with autosomal dominant nocturnal frontal lobe epilepsy. 24 61
12887446 2003
38
Schizophrenia, psychotic illness and other psychiatric symptoms in families with autosomal dominant nocturnal frontal lobe epilepsy caused by different mutations. 61 24
12782965 2003
39
A de novo mutation in sporadic nocturnal frontal lobe epilepsy. 61 24
10939581 2000
40
Dominant partial epilepsies. A clinical, electrophysiological and genetic study of 19 European families. 24 61
10825362 2000
41
Independent occurrence of the CHRNA4 Ser248Phe mutation in a Norwegian family with nocturnal frontal lobe epilepsy. 61 24
10802757 2000
42
Electroclinical picture of autosomal dominant nocturnal frontal lobe epilepsy in a Japanese family. 24 61
10643924 2000
43
Mutated nicotinic receptors responsible for autosomal dominant nocturnal frontal lobe epilepsy are more sensitive to carbamazepine. 24 61
10487182 1999
44
SER252PHE and 776INS3 mutations in the CHRNA4 gene are rare in the Italian ADNFLE population. 61 24
10450598 1999
45
Neuronal nicotinic acetylcholine receptors: their properties and alterations in autosomal dominant nocturnal frontal lobe epilepsy. 24 61
10472659 1999
46
Autosomal dominant nocturnal frontal lobe epilepsy: an electroclinical study of a Norwegian family with ten affected members. 24 61
9924907 1999
47
A family with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation. 61 24
9840354 1998
48
Two mutations linked to nocturnal frontal lobe epilepsy cause use-dependent potentiation of the nicotinic ACh response. 24 61
9824708 1998
49
Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsy. 61 24
9831911 1998
50
Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. 61 24
9758605 1998

Variations for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DEPDC5 NM_001242896.3(DEPDC5):c.3709del (p.Glu1237fs)deletion Pathogenic 873407 22:32272155-32272155 22:31876169-31876169
2 CHRNA4 NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu)SNV Pathogenic 17500 rs28931591 20:61981912-61981912 20:63350560-63350560
3 CRH NM_000756.3(CRH):c.-669C>ASNV Pathogenic 38800 rs12721510 8:67091182-67091182 8:66178947-66178947
4 CRH NM_000756.3(CRH):c.-365G>CSNV Pathogenic 41037 rs72556399 8:67090878-67090878 8:66178643-66178643
5 CHRNA4 NM_000744.7(CHRNA4):c.1087G>A (p.Val363Met)SNV Conflicting interpretations of pathogenicity 98304 rs121912266 20:61981676-61981676 20:63350324-63350324
6 CHRNA4 NM_000744.7(CHRNA4):c.1169G>A (p.Gly390Glu)SNV Conflicting interpretations of pathogenicity 98306 rs121912268 20:61981594-61981594 20:63350242-63350242
7 CHRNA4 NM_000744.7(CHRNA4):c.979G>A (p.Val327Met)SNV Conflicting interpretations of pathogenicity 835474 20:61981784-61981784 20:63350432-63350432
8 CHRNB2 NM_000748.3(CHRNB2):c.78G>A (p.Thr26=)SNV Conflicting interpretations of pathogenicity 410307 rs143402032 1:154541951-154541951 1:154569475-154569475
9 CHRNB2 NM_000748.3(CHRNB2):c.1236C>T (p.Gly412=)SNV Conflicting interpretations of pathogenicity 416088 rs767533378 1:154544535-154544535 1:154572059-154572059
10 CHRNB2 NM_000748.3(CHRNB2):c.122G>A (p.Arg41His)SNV Conflicting interpretations of pathogenicity 420432 rs199999862 1:154541995-154541995 1:154569519-154569519
11 CHRNA4 NM_000744.7(CHRNA4):c.1667C>T (p.Pro556Leu)SNV Conflicting interpretations of pathogenicity 422587 rs77345643 20:61981096-61981096 20:63349744-63349744
12 CHRNA4 NM_000744.7(CHRNA4):c.1415C>T (p.Ser472Phe)SNV Conflicting interpretations of pathogenicity 420380 rs534477048 20:61981348-61981348 20:63349996-63349996
13 CHRNA4 NM_000744.7(CHRNA4):c.1376G>A (p.Gly459Glu)SNV Conflicting interpretations of pathogenicity 421324 rs753201154 20:61981387-61981387 20:63350035-63350035
14 CHRNA4 NM_000744.7(CHRNA4):c.1269G>C (p.Lys423Asn)SNV Conflicting interpretations of pathogenicity 420616 rs199916140 20:61981494-61981494 20:63350142-63350142
15 CHRNA4 NM_000744.7(CHRNA4):c.38_49dup (p.Pro13_Leu16dup)duplication Conflicting interpretations of pathogenicity 420173 rs1064794327 20:61992468-61992469 20:63361116-63361117
16 CHRNA4 NM_000744.7(CHRNA4):c.1484G>C (p.Arg495Pro)SNV Conflicting interpretations of pathogenicity 419330 rs549863396 20:61981279-61981279 20:63349927-63349927
17 CHRNA4 NM_000744.7(CHRNA4):c.681C>A (p.Ala227=)SNV Conflicting interpretations of pathogenicity 447036 rs45588436 20:61982082-61982082 20:63350730-63350730
18 CHRNA4 NM_000744.7(CHRNA4):c.1667C>G (p.Pro556Arg)SNV Conflicting interpretations of pathogenicity 452325 rs77345643 20:61981096-61981096 20:63349744-63349744
19 CHRNA2 NM_000742.4(CHRNA2):c.984C>T (p.Ile328=)SNV Conflicting interpretations of pathogenicity 476996 rs371858399 8:27320976-27320976 8:27463459-27463459
20 CHRNA4 NM_000744.7(CHRNA4):c.16C>A (p.Pro6Thr)SNV Conflicting interpretations of pathogenicity 507342 rs796052312 20:61992502-61992502 20:63361150-63361150
21 CHRNA4 NM_000744.7(CHRNA4):c.1538G>A (p.Arg513His)SNV Conflicting interpretations of pathogenicity 506637 rs868845088 20:61981225-61981225 20:63349873-63349873
22 CHRNA4 NM_000744.7(CHRNA4):c.1273C>T (p.Pro425Ser)SNV Conflicting interpretations of pathogenicity 546335 rs764808511 20:61981490-61981490 20:63350138-63350138
23 CHRNA4 NM_000744.7(CHRNA4):c.1266C>T (p.Cys422=)SNV Conflicting interpretations of pathogenicity 98312 rs121912274 20:61981497-61981497 20:63350145-63350145
24 CHRNA4 NM_000744.7(CHRNA4):c.1460G>A (p.Arg487Gln)SNV Conflicting interpretations of pathogenicity 98318 rs121912280 20:61981303-61981303 20:63349951-63349951
25 CHRNA4 NM_000744.7(CHRNA4):c.1634C>T (p.Thr545Met)SNV Conflicting interpretations of pathogenicity 98320 rs121912282 20:61981129-61981129 20:63349777-63349777
26 CHRNA4 NM_000744.7(CHRNA4):c.1635G>A (p.Thr545=)SNV Conflicting interpretations of pathogenicity 98321 rs121912283 20:61981128-61981128 20:63349776-63349776
27 CHRNA4 NM_000744.7(CHRNA4):c.442C>T (p.Arg148Trp)SNV Conflicting interpretations of pathogenicity 98324 rs121912243 20:61982321-61982321 20:63350969-63350969
28 CHRNA2 NM_000742.4(CHRNA2):c.1234G>A (p.Glu412Lys)SNV Conflicting interpretations of pathogenicity 128736 rs141721605 8:27320726-27320726 8:27463209-27463209
29 CHRNA4 NM_000744.7(CHRNA4):c.729G>A (p.Pro243=)SNV Conflicting interpretations of pathogenicity 98334 rs121912253 20:61982034-61982034 20:63350682-63350682
30 CHRNA4 NM_000744.7(CHRNA4):c.24G>C (p.Ala8=)SNV Conflicting interpretations of pathogenicity 128748 rs6089898 20:61992494-61992494 20:63361142-63361142
31 CHRNA2 NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu)SNV Conflicting interpretations of pathogenicity 136753 rs56344740 8:27320526-27320526 8:27463009-27463009
32 CHRNA4 NM_000744.7(CHRNA4):c.1203G>C (p.Leu401=)SNV Conflicting interpretations of pathogenicity 136758 rs56142348 20:61981560-61981560 20:63350208-63350208
33 CHRNA4 NM_000744.6(CHRNA4):c.77-4G>ASNV Conflicting interpretations of pathogenicity 136765 rs201123897 20:61991055-61991055 20:63359703-63359703
34 CHRNB2 NM_000748.3(CHRNB2):c.1485C>T (p.Asp495=)SNV Conflicting interpretations of pathogenicity 136774 rs144813907 1:154548384-154548384 1:154575908-154575908
35 CHRNB2 NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His)SNV Conflicting interpretations of pathogenicity 158330 rs55685423 1:154544490-154544490 1:154572014-154572014
36 CHRNA2 NM_000742.4(CHRNA2):c.873C>T (p.Ser291=)SNV Conflicting interpretations of pathogenicity 166881 rs76140563 8:27321087-27321087 8:27463570-27463570
37 CHRNB2 NM_000748.3(CHRNB2):c.1378C>G (p.Arg460Gly)SNV Conflicting interpretations of pathogenicity 191352 rs202079239 1:154548277-154548277 1:154575801-154575801
38 CHRNA2 NM_000742.4(CHRNA2):c.383G>A (p.Gly128Asp)SNV Conflicting interpretations of pathogenicity 197689 rs138682847 8:27324812-27324812 8:27467295-27467295
39 CHRNA4 NM_000744.7(CHRNA4):c.1454G>A (p.Arg485Gln)SNV Conflicting interpretations of pathogenicity 197690 rs755416498 20:61981309-61981309 20:63349957-63349957
40 CHRNA4 NM_000744.7(CHRNA4):c.1441G>A (p.Gly481Ser)SNV Conflicting interpretations of pathogenicity 197692 rs111969225 20:61981322-61981322 20:63349970-63349970
41 CHRNB2 NM_000748.3(CHRNB2):c.360_362CAA[1] (p.Asn122del)short repeat Conflicting interpretations of pathogenicity 205077 rs796052329 1:154542837-154542839 1:154570361-154570363
42 CHRNB2 NM_000748.3(CHRNB2):c.1114G>A (p.Gly372Ser)SNV Conflicting interpretations of pathogenicity 205057 rs753731408 1:154544413-154544413 1:154571937-154571937
43 CHRNB2 NM_000748.3(CHRNB2):c.1234G>A (p.Gly412Ser)SNV Conflicting interpretations of pathogenicity 205059 rs774449832 1:154544533-154544533 1:154572057-154572057
44 CHRNB2 NM_000748.3(CHRNB2):c.1235G>A (p.Gly412Asp)SNV Conflicting interpretations of pathogenicity 205060 rs112585933 1:154544534-154544534 1:154572058-154572058
45 CHRNA2 NM_000742.4(CHRNA2):c.745G>A (p.Ala249Thr)SNV Conflicting interpretations of pathogenicity 204946 rs77710085 8:27321215-27321215 8:27463698-27463698
46 CHRNA2 NM_000742.4(CHRNA2):c.731A>G (p.Lys244Arg)SNV Conflicting interpretations of pathogenicity 204965 rs146751925 8:27321229-27321229 8:27463712-27463712
47 CHRNA2 NM_000742.4(CHRNA2):c.710C>A (p.Thr237Lys)SNV Conflicting interpretations of pathogenicity 204963 rs140350483 8:27321250-27321250 8:27463733-27463733
48 CHRNA2 NM_000742.4(CHRNA2):c.401G>A (p.Arg134Lys)SNV Conflicting interpretations of pathogenicity 204988 rs150112824 8:27324794-27324794 8:27467277-27467277
49 CHRNA2 NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met)SNV Conflicting interpretations of pathogenicity 204979 rs74772771 8:27327432-27327432 8:27469915-27469915
50 CHRNA4 NM_000744.7(CHRNA4):c.1757C>T (p.Ser586Leu)SNV Conflicting interpretations of pathogenicity 205039 rs200644872 20:61981006-61981006 20:63349654-63349654

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
12.51 KCNQ3 KCNQ2 CHRNB3 CHRNB2 CHRNA7 CHRNA6
4
Show member pathways
12.43 SCN1A KCNQ3 KCNQ2 CHRNB2 CHRNA7 CHRNA6
5 11.97 CHRNB2 CHRNA7 CHRNA4 CHRFAM7A
6
Show member pathways
11.75 SCN1A KCNQ3 KCNQ2
7
Show member pathways
11.66 CHRNB2 CHRNA6 CHRNA5 CHRNA4 CHRNA3
8 11.22 CHRNB2 CHRNA7 CHRNA6 CHRNA4
9
Show member pathways
11.13 CHRNB3 CHRNB2 CHRNA7 CHRNA6 CHRNA5 CHRNA4
10 11.09 SCN1A KCNQ3 KCNQ2

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 15)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.42 SCN1A KCNT1 KCNQ3 KCNQ2 DEPDC5 CHRNB3
2 plasma membrane GO:0005886 10.35 SCN1A KCNT1 KCNQ3 KCNQ2 CHRNB3 CHRNB2
3 integral component of membrane GO:0016021 10.34 SCN1A KCNT1 KCNQ3 KCNQ2 CHRNB3 CHRNB2
4 integral component of plasma membrane GO:0005887 10.18 KCNQ3 KCNQ2 CHRNB3 CHRNB2 CHRNB1 CHRNA7
5 cell junction GO:0030054 10.11 LGI1 CHRNB3 CHRNB2 CHRNB1 CHRNA7 CHRNA6
6 neuron projection GO:0043005 9.96 CHRNB3 CHRNB2 CHRNB1 CHRNA7 CHRNA6 CHRNA5
7 neuronal cell body GO:0043025 9.92 SCN1A EFHC1 CRH CHRNA4 CHRNA3
8 postsynaptic membrane GO:0045211 9.81 CHRNB3 CHRNB2 CHRNB1 CHRNA7 CHRNA6 CHRNA5
9 dopaminergic synapse GO:0098691 9.72 CHRNB3 CHRNB2 CHRNA6 CHRNA5 CHRNA4
10 integral component of presynaptic membrane GO:0099056 9.69 CHRNB2 CHRNA6 CHRNA4
11 plasma membrane raft GO:0044853 9.65 CHRNB2 CHRNA7 CHRNA3
12 acetylcholine-gated channel complex GO:0005892 9.65 CHRNB3 CHRNB2 CHRNB1 CHRNA7 CHRNA6 CHRNA5
13 axon initial segment GO:0043194 9.63 SCN1A KCNQ3 KCNQ2
14 node of Ranvier GO:0033268 9.61 SCN1A KCNQ3 KCNQ2
15 synapse GO:0045202 9.5 LGI1 KCNQ3 KCNQ2 CRH CHRNB3 CHRNB2

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.33 CRH CHRNB3 CHRNB2 CHRNB1 CHRNA7 CHRNA6
2 ion transmembrane transport GO:0034220 10.22 SCN1A CHRNB3 CHRNB2 CHRNB1 CHRNA7 CHRNA6
3 regulation of postsynaptic membrane potential GO:0060078 10.09 CHRNB3 CHRNB2 CHRNB1 CHRNA7 CHRNA6 CHRNA5
4 excitatory postsynaptic potential GO:0060079 10.07 CHRNB3 CHRNB2 CHRNB1 CHRNA7 CHRNA6 CHRNA5
5 neuromuscular synaptic transmission GO:0007274 10.06 CHRNB3 CHRNB2 CHRNB1 CHRNA6 CHRNA5 CHRNA4
6 response to nicotine GO:0035094 10.06 CHRNB3 CHRNB2 CHRNB1 CHRNA7 CHRNA6 CHRNA5
7 nervous system process GO:0050877 10.02 CHRNB3 CHRNB2 CHRNB1 CHRNA7 CHRNA6 CHRNA5
8 synaptic transmission, cholinergic GO:0007271 9.96 CHRNB3 CHRNB2 CHRNB1 CHRNA7 CHRNA6 CHRNA5
9 regulation of synaptic vesicle exocytosis GO:2000300 9.92 CHRNB3 CHRNB2 CHRNA6 CHRNA5 CHRNA4
10 regulation of membrane potential GO:0042391 9.9 SCN1A CHRNB3 CHRNB2 CHRNB1 CHRNA7 CHRNA6
11 behavioral response to nicotine GO:0035095 9.89 CHRNB2 CHRNB1 CHRNA5 CHRNA4 CHRNA3
12 acetylcholine receptor signaling pathway GO:0095500 9.81 CHRNB2 CHRNA7 CHRNA4 CHRNA3
13 calcium ion transport GO:0006816 9.8 CHRNB2 CHRNA7 CHRNA4
14 potassium ion transport GO:0006813 9.79 KCNT1 KCNQ3 KCNQ2
15 potassium ion transmembrane transport GO:0071805 9.79 KCNT1 KCNQ3 KCNQ2
16 locomotory behavior GO:0007626 9.77 CHRNB2 CHRNA4 CHRNA3
17 cognition GO:0050890 9.77 CHRNB2 CHRNA7 CHRNA4
18 chemical synaptic transmission GO:0007268 9.77 KCNQ3 KCNQ2 CRH CHRNB3 CHRNB2 CHRNB1
19 regulation of dopamine secretion GO:0014059 9.75 CHRNB2 CHRNA6 CHRNA4
20 membrane depolarization GO:0051899 9.74 CHRNB2 CHRNA6 CHRNA4
21 action potential GO:0001508 9.73 SCN1A CHRNB2 CHRNA4
22 response to acetylcholine GO:1905144 9.71 CHRNB2 CHRNA7 CHRNA3
23 regulation of dendrite morphogenesis GO:0048814 9.61 CHRNB2 CHRNA3
24 synaptic transmission involved in micturition GO:0060084 9.58 CHRNB2 CHRNA3
25 ion transport GO:0006811 9.47 SCN1A KCNT1 KCNQ3 KCNQ2 CHRNB3 CHRNB2

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 10.02 CHRNB3 CHRNB2 CHRNB1 CHRNA7 CHRNA6 CHRNA5
3 acetylcholine binding GO:0042166 10.02 CHRNB3 CHRNB2 CHRNB1 CHRNA7 CHRNA6 CHRNA5
4 neurotransmitter receptor activity GO:0030594 9.96 CHRNB3 CHRNB2 CHRNB1 CHRNA7 CHRNA6 CHRNA5
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 potassium channel activity GO:0005267 9.65 KCNT1 KCNQ3 KCNQ2
8 extracellular ligand-gated ion channel activity GO:0005230 9.65 CHRNB3 CHRNB2 CHRNB1 CHRNA7 CHRNA6 CHRNA5
9 drug binding GO:0008144 9.63 CHRNB3 CHRNB2 CHRNA2
10 ion channel activity GO:0005216 9.44 SCN1A KCNQ3 KCNQ2 CHRNB3 CHRNB2 CHRNB1

Sources for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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