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, testes and temporal lobe, 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 77)
# Related Disease Score Top Affiliating Genes
1 epilepsy, nocturnal frontal lobe, 2 34.8 CHRNB2 CHRNA4
2 epilepsy, nocturnal frontal lobe, 3 34.8 CHRNB2 CHRNA4
3 epilepsy, nocturnal frontal lobe, 1 34.6 SCN1A KCNQ3 KCNQ2 CRH CHRNB2 CHRNA4
4 focal epilepsy 31.4 SCN1A LGI1 KCNT1 KCNQ3 KCNQ2 DEPDC5
5 epilepsy 31.4 SCN1A LGI1 KCNT1 KCNQ3 KCNQ2 EFHC1
6 visual epilepsy 31.4 SCN1A KCNQ2 DEPDC5 CHRNA4
7 seizure disorder 31.3 SCN1A KCNQ2
8 early myoclonic encephalopathy 31.0 SCN1A KCNT1 KCNQ3 KCNQ2 EFHC1 CHRNA4
9 unverricht-lundborg syndrome 31.0 KCNQ3 EFHC1 CHRNB2 CHRNA4 CHRNA2
10 status epilepticus 30.9 SCN1A LGI1 KCNQ2
11 malignant migrating partial seizures of infancy 30.9 SCN1A KCNT1
12 benign neonatal seizures 30.7 SCN1A KCNT1 KCNQ3 KCNQ2 EFHC1 CHRNB2
13 epilepsy, myoclonic juvenile 30.4 SCN1A LGI1 KCNQ3 KCNQ2 EFHC1 DEPDC5
14 generalized epilepsy with febrile seizures plus 30.4 SCN1A LGI1 KCNT1 KCNQ3 KCNQ2 EFHC1
15 epilepsy, nocturnal frontal lobe, 5 12.5
16 epilepsy, nocturnal frontal lobe, 4 12.5
17 autosomal dominant epilepsy with auditory features 10.6 LGI1 DEPDC5
18 kcnq2-related disorders 10.6 KCNQ3 KCNQ2
19 epilepsy, familial temporal lobe, 3 10.6 LGI1 DEPDC5
20 smoking as a quantitative trait locus 3 10.6 CHRNA5 CHRNA3
21 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 10.5 KCNQ3 KCNQ2 CHRNA4
22 seizures, benign familial neonatal, 2 10.5 KCNQ3 KCNQ2
23 epileptic encephalopathy, early infantile, 7 10.5 KCNT1 KCNQ3 KCNQ2
24 cocaine dependence 10.5 CHRNB3 CHRNA5 CHRNA3
25 juvenile absence epilepsy 10.5 SCN1A EFHC1 CHRNA7
26 benign familial neonatal epilepsy 10.5 SCN1A KCNQ3 KCNQ2
27 reflex epilepsy 10.5 SCN1A LGI1 CHRNB2 CHRNA2
28 drug dependence 10.5 CRH CHRNB3 CHRNA6
29 epileptic encephalopathy, early infantile, 9 10.5 SCN1A KCNT1 KCNQ2 DEPDC5
30 epilepsy, familial temporal lobe, 1 10.5 LGI1 EFHC1 CHRNB2 CHRNA2
31 epilepsy, familial focal, with variable foci 1 10.5
32 dystonia 10.5
33 infancy electroclinical syndrome 10.5 SCN1A KCNT1 KCNQ3 KCNQ2
34 hyperekplexia 10.4 LGI1 CHRNB1 CHRNA4
35 landau-kleffner syndrome 10.4 SCN1A KCNQ2
36 cortical deafness 10.4 LGI1 KCNT1
37 lennox-gastaut syndrome 10.4 SCN1A KCNT1 KCNQ3 KCNQ2 CHRNB2
38 episodic ataxia 10.4 SCN1A KCNQ3 KCNQ2
39 partial motor epilepsy 10.4 SCN1A LGI1 KCNT1 KCNQ2 DEPDC5
40 migraine with or without aura 1 10.4 SCN1A KCNQ3 KCNQ2 CRH
41 depdc5-related epilepsy 10.4
42 epilepsy, partial, familial 10.4
43 paroxysmal dystonia 10.4
44 childhood electroclinical syndrome 10.4 SCN1A KCNT1 KCNQ3 KCNQ2 EFHC1
45 alcohol dependence 10.4 CRH CHRNB3 CHRNA6 CHRNA5 CHRNA4 CHRNA3
46 epilepsy with generalized tonic-clonic seizures 10.4 SCN1A EFHC1
47 substance dependence 10.3 CRH CHRNB3 CHRNB2 CHRNA6 CHRNA5 CHRNA4
48 electroclinical syndrome 10.3 SCN1A LGI1 KCNT1 KCNQ3 KCNQ2 EFHC1
49 early onset absence epilepsy 10.3 SCN1A KCNQ3 KCNQ2 EFHC1 DEPDC5 CHRNB2
50 west syndrome 10.3 SCN1A KCNT1 KCNQ3 KCNQ2 DEPDC5 CRH

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, Temporal Lobe

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. 61 24 6
25770198 2015
2
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. 61 24 6
23086396 2012
3
Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation. 61 24 6
21753767 2011
4
A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation. 61 24 6
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. 61 24 6
11062464 2000
7
A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy. 61 24 6
10563623 1999
8
Exon-intron structure of the human neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4). 61 24 6
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 61 6
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. 61 6
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. 61 24
25847220 2015
19
DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy. 61 24
24814846 2014
20
KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine. 61 24
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. 61 24
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. 61 24
20189461 2010
30
Pleiotropic functional effects of the first epilepsy-associated mutation in the human CHRNA2 gene. 61 24
19383498 2009
31
A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy. 61 24
19058950 2009
32
Neuropsychological disturbances in frontal lobe epilepsy due to mutated nicotinic receptors. 61 24
19059498 2009
33
K-complex-induced seizures in autosomal dominant nocturnal frontal lobe epilepsy. 61 24
18762450 2008
34
Frontal lobe epilepsy and mutations of the corticotropin-releasing hormone gene. 61 24
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. 61 24
15316796 2004
37
Evidence for S284L mutation of the CHRNA4 in a white family with autosomal dominant nocturnal frontal lobe epilepsy. 61 24
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. 61 24
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. 61 24
10643924 2000
43
Mutated nicotinic receptors responsible for autosomal dominant nocturnal frontal lobe epilepsy are more sensitive to carbamazepine. 61 24
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. 61 24
10472659 1999
46
Autosomal dominant nocturnal frontal lobe epilepsy: an electroclinical study of a Norwegian family with ten affected members. 61 24
9924907 1999
47
Two mutations linked to nocturnal frontal lobe epilepsy cause use-dependent potentiation of the nicotinic ACh response. 61 24
9824708 1998
48
A family with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation. 61 24
9840354 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 CHRNA4 NM_000744.6(CHRNA4):c.851C>T (p.Ser284Leu)SNV Pathogenic 17500 rs28931591 20:61981912-61981912 20:63350560-63350560
2 CRH NM_000756.3(CRH):c.-669C>ASNV Pathogenic 38800 rs12721510 8:67091182-67091182 8:66178947-66178947
3 CRH NM_000756.3(CRH):c.-365G>CSNV Pathogenic 41037 rs72556399 8:67090878-67090878 8:66178643-66178643
4 CHRNA4 NM_000744.6(CHRNA4):c.1087G>A (p.Val363Met)SNV Conflicting interpretations of pathogenicity 98304 rs121912266 20:61981676-61981676 20:63350324-63350324
5 CHRNA4 NM_000744.6(CHRNA4):c.1637T>G (p.Val546Gly)SNV Conflicting interpretations of pathogenicity 205003 rs764888239 20:61981126-61981126 20:63349774-63349774
6 CHRNA4 NM_000744.6(CHRNA4):c.1360G>A (p.Gly454Ser)SNV Conflicting interpretations of pathogenicity 204998 rs78306886 20:61981403-61981403 20:63350051-63350051
7 CHRNB2 NM_000748.3(CHRNB2):c.1234G>A (p.Gly412Ser)SNV Conflicting interpretations of pathogenicity 205059 rs774449832 1:154544533-154544533 1:154572057-154572057
8 CHRNA2 NM_000742.4(CHRNA2):c.173C>T (p.Thr58Ile)SNV Conflicting interpretations of pathogenicity 204952 rs151268950 8:27327399-27327399 8:27469882-27469882
9 CHRNA4 NM_000744.6(CHRNA4):c.1726G>C (p.Asp576His)SNV Conflicting interpretations of pathogenicity 205038 rs537904499 20:61981037-61981037 20:63349685-63349685
10 CHRNA4 NM_000744.6(CHRNA4):c.1634C>T (p.Thr545Met)SNV Conflicting interpretations of pathogenicity 98320 rs121912282 20:61981129-61981129 20:63349777-63349777
11 CHRNA4 NM_000744.6(CHRNA4):c.1245G>A (p.Pro415=)SNV Conflicting interpretations of pathogenicity 382206 rs200164578 20:61981518-61981518 20:63350166-63350166
12 CHRNB2 NM_000748.3(CHRNB2):c.78G>A (p.Thr26=)SNV Conflicting interpretations of pathogenicity 410307 rs143402032 1:154541951-154541951 1:154569475-154569475
13 CHRNA4 NM_001256573.2(CHRNA4):c.699_700inv (p.Val234Ile)inversion Conflicting interpretations of pathogenicity 411850 20:61981535-61981536 20:63350183-63350184
14 CHRNA4 NM_000744.6(CHRNA4):c.1415C>T (p.Ser472Phe)SNV Conflicting interpretations of pathogenicity 420380 rs534477048 20:61981348-61981348 20:63349996-63349996
15 CHRNA4 NM_000744.6(CHRNA4):c.1269G>C (p.Lys423Asn)SNV Conflicting interpretations of pathogenicity 420616 rs199916140 20:61981494-61981494 20:63350142-63350142
16 CHRNA4 NM_000744.6(CHRNA4):c.1538G>A (p.Arg513His)SNV Conflicting interpretations of pathogenicity 506637 rs868845088 20:61981225-61981225 20:63349873-63349873
17 CHRNB2 NM_000748.3(CHRNB2):c.734del (p.Cys245fs)deletion Uncertain significance 543531 rs780184576 1:154544033-154544033 1:154571557-154571557
18 CHRNB2 NM_000748.3(CHRNB2):c.154G>A (p.Gly52Ser)SNV Uncertain significance 543530 rs1553204015 1:154542027-154542027 1:154569551-154569551
19 CHRNA2 NM_000742.4(CHRNA2):c.196C>G (p.Leu66Val)SNV Uncertain significance 543517 rs1473197891 8:27327376-27327376 8:27469859-27469859
20 CHRNA2 NM_000742.4(CHRNA2):c.1516T>A (p.Trp506Arg)SNV Uncertain significance 543534 rs1012797739 8:27319220-27319220 8:27461703-27461703
21 CHRNB2 NM_000748.3(CHRNB2):c.1231G>C (p.Ala411Pro)SNV Uncertain significance 543525 rs1225745274 1:154544530-154544530 1:154572054-154572054
22 CHRNB2 NM_000748.3(CHRNB2):c.991A>G (p.Met331Val)SNV Uncertain significance 543535 rs1207496178 1:154544290-154544290 1:154571814-154571814
23 CHRNB2 NM_000748.3(CHRNB2):c.788G>A (p.Gly263Asp)SNV Uncertain significance 543514 rs373676452 1:154544087-154544087 1:154571611-154571611
24 CHRNA2 NM_000742.4(CHRNA2):c.1127G>A (p.Arg376Gln)SNV Uncertain significance 543524 rs374512926 8:27320833-27320833 8:27463316-27463316
25 CHRNA2 NM_000742.4(CHRNA2):c.1117T>C (p.Cys373Arg)SNV Uncertain significance 543528 rs137965290 8:27320843-27320843 8:27463326-27463326
26 CHRNA2 NM_000742.4(CHRNA2):c.449+3A>TSNV Uncertain significance 543532 rs750588205 8:27324743-27324743 8:27467226-27467226
27 CHRNA2 NM_000742.4(CHRNA2):c.214C>T (p.Arg72Cys)SNV Uncertain significance 543519 rs201890355 8:27327358-27327358 8:27469841-27469841
28 CHRNB2 NM_000748.3(CHRNB2):c.1379G>A (p.Arg460His)SNV Uncertain significance 477012 rs1297214421 1:154548278-154548278 1:154575802-154575802
29 CHRNA2 NM_000742.4(CHRNA2):c.1045G>C (p.Val349Leu)SNV Uncertain significance 476986 rs774279507 8:27320915-27320915 8:27463398-27463398
30 CHRNA2 NM_000742.4(CHRNA2):c.1030G>A (p.Val344Ile)SNV Uncertain significance 476985 rs567044128 8:27320930-27320930 8:27463413-27463413
31 CHRNA2 NM_000742.4(CHRNA2):c.1223T>C (p.Val408Ala)SNV Uncertain significance 476988 rs747909980 8:27320737-27320737 8:27463220-27463220
32 CHRNA2 NM_000742.4(CHRNA2):c.772G>A (p.Ala258Thr)SNV Uncertain significance 476995 rs200372256 8:27321188-27321188 8:27463671-27463671
33 CHRNA2 NM_000742.4(CHRNA2):c.670G>A (p.Asp224Asn)SNV Uncertain significance 476993 rs781326114 8:27321290-27321290 8:27463773-27463773
34 CHRNA2 NM_000742.4(CHRNA2):c.985G>A (p.Gly329Ser)SNV Uncertain significance 476997 rs56371471 8:27320975-27320975 8:27463458-27463458
35 CHRNA2 NM_000742.4(CHRNA2):c.701T>C (p.Val234Ala)SNV Uncertain significance 476994 rs768590131 8:27321259-27321259 8:27463742-27463742
36 CHRNB2 NM_000748.3(CHRNB2):c.790G>A (p.Glu264Lys)SNV Uncertain significance 477017 rs1212070745 1:154544089-154544089 1:154571613-154571613
37 CHRNA2 NM_000742.4(CHRNA2):c.203G>A (p.Arg68Gln)SNV Uncertain significance 476990 rs548268816 8:27327369-27327369 8:27469852-27469852
38 CHRNA2 NM_000742.4(CHRNA2):c.107C>T (p.Ala36Val)SNV Uncertain significance 476987 rs1313467019 8:27327465-27327465 8:27469948-27469948
39 CHRNA4 NM_000744.6(CHRNA4):c.1697G>A (p.Arg566Gln)SNV Uncertain significance 477005 rs200810080 20:61981066-61981066 20:63349714-63349714
40 CHRNA4 NM_000744.6(CHRNA4):c.1075A>T (p.Lys359Ter)SNV Uncertain significance 476998 rs1555837732 20:61981688-61981688 20:63350336-63350336
41 CHRNA4 NM_000744.6(CHRNA4):c.1412T>C (p.Met471Thr)SNV Uncertain significance 477001 rs1317529556 20:61981351-61981351 20:63349999-63349999
42 CHRNA4 NM_000744.6(CHRNA4):c.1178dup (p.Ala394fs)duplication Uncertain significance 477000 rs1435638963 20:61981584-61981585 20:63350232-63350233
43 CHRNA4 NM_000744.6(CHRNA4):c.211G>A (p.Ala71Thr)SNV Uncertain significance 477009 rs200527878 20:61990917-61990917 20:63359565-63359565
44 CHRNA4 NM_000744.6(CHRNA4):c.180C>G (p.Asp60Glu)SNV Uncertain significance 477008 rs112051150 20:61990948-61990948 20:63359596-63359596
45 CHRNA2 NM_000742.4(CHRNA2):c.810C>G (p.Ile270Met)SNV Uncertain significance 543518 rs892421066 8:27321150-27321150 8:27463633-27463633
46 CHRNA2 NM_000742.4(CHRNA2):c.799T>A (p.Phe267Ile)SNV Uncertain significance 543521 rs1554514530 8:27321161-27321161 8:27463644-27463644
47 CHRNA2 NM_000742.4(CHRNA2):c.695C>A (p.Ala232Asp)SNV Uncertain significance 543529 rs933808461 8:27321265-27321265 8:27463748-27463748
48 CHRNA4 NM_000744.6(CHRNA4):c.880G>A (p.Glu294Lys)SNV Uncertain significance 543533 rs201654194 20:61981883-61981883 20:63350531-63350531
49 CHRNA4 NM_000744.6(CHRNA4):c.1670A>C (p.His557Pro)SNV Uncertain significance 543515 rs1282336623 20:61981093-61981093 20:63349741-63349741
50 CHRNA4 NM_000744.6(CHRNA4):c.1057C>A (p.Pro353Thr)SNV Uncertain significance 543516 rs201052218 20:61981706-61981706 20:63350354-63350354

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 10.15 KCNQ3 KCNQ2 CHRNB3 CHRNB2 CHRNB1 CHRNA7
5 cell junction GO:0030054 10.1 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 9.91 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 9.7 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 26)
# 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 9.8 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 protein heterooligomerization GO:0051291 9.77 CHRNB3 CHRNB2 CHRNA2
18 chemical synaptic transmission GO:0007268 9.77 KCNQ3 KCNQ2 CRH CHRNB3 CHRNB2 CHRNB1
19 cognition GO:0050890 9.76 CHRNB2 CHRNA7 CHRNA4
20 regulation of dopamine secretion GO:0014059 9.74 CHRNB2 CHRNA6 CHRNA4
21 membrane depolarization GO:0051899 9.73 CHRNB2 CHRNA6 CHRNA4
22 response to acetylcholine GO:1905144 9.71 CHRNB2 CHRNA7 CHRNA3
23 regulation of dendrite morphogenesis GO:0048814 9.61 CHRNB2 CHRNA3
24 action potential GO:0001508 9.61 CHRNB2 CHRNA4
25 synaptic transmission involved in micturition GO:0060084 9.58 CHRNB2 CHRNA3
26 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 acetylcholine-gated cation-selective channel activity GO:0022848 9.97 CHRNB3 CHRNB2 CHRNB1 CHRNA7 CHRNA6 CHRNA5
2 acetylcholine binding GO:0042166 9.96 CHRNB3 CHRNB2 CHRNB1 CHRNA7 CHRNA6 CHRNA5
3 acetylcholine receptor activity GO:0015464 9.85 CHRNB3 CHRNB2 CHRNB1 CHRNA7 CHRNA6 CHRNA5
4 ligand-gated ion channel activity GO:0015276 9.77 CHRNB2 CHRNB1 CHRNA5 CHRNA4 CHRNA3
5 transmembrane signaling receptor activity GO:0004888 9.71 CHRNB2 CHRNB1 CHRNA7 CHRNA4
6 voltage-gated ion channel activity GO:0005244 9.65 SCN1A KCNQ3 KCNQ2
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 drug binding GO:0008144 9.61 CHRNB3 CHRNB2 CHRNA2
10 ion channel activity GO:0005216 9.36 SCN1A CHRNB3 CHRNB2 CHRNB1 CHRNA7 CHRNA6

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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