MCID: ATS011
MIFTS: 37

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Categories: Rare diseases, Neuronal 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 23 49 24 36 28 14 69
Adnfle 23 49 24
Epilepsy, Nocturnal Frontal Lobe, Type 1 69
Epilepsy, Nocturnal Frontal Lobe, 1 49
Enfl1 49
Enfl 12

Characteristics:

GeneReviews:

23
Penetrance Penetrance is estimated at 70%. kcnt1-related adnfle demonstrates complete penetrance compared to 60-80% in nachr-related adnfle...

Classifications:



External Ids:

Disease Ontology 12 DOID:0060681
KEGG 36 H00807

Summaries for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

NIH Rare Diseases : 49 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. Last updated: 7/22/2015

MalaCards based summary : Autosomal Dominant Nocturnal Frontal Lobe Epilepsy, also known as adnfle, is related to autosomal dominant nocturnal frontal lobe epilepsy 2 and epilepsy, nocturnal frontal lobe, 1. 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 Neuroactive ligand-receptor interaction and Cholinergic synapse. Affiliated tissues include testes and brain, and related phenotype is nervous system.

Genetics Home Reference : 24 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.

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.

GeneReviews: NBK1169

Related Diseases for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.1 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2 KCNT1

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

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 28

Anatomical Context for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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

38
Testes, Brain

Publications for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Articles related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy:

(show top 50) (show all 72)
# Title Authors Year
1
Exome sequencing identified a novel missense mutation c.464G>A (p.G155D) in Ca<sup>2+</sup>-binding protein 4 (<i>CABP4</i>) in a Chinese pedigree with autosomal dominant nocturnal frontal lobe epilepsy. ( 29108277 )
2017
2
Mutation Linked to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Reduces Low-Sensitivity I+4I^2, and Increases I+5I+4I^2, Nicotinic Receptor Surface Expression. ( 27336596 )
2016
3
The role of nicotinic acetylcholine receptors in autosomal dominant nocturnal frontal lobe epilepsy. ( 25717303 )
2015
4
Mutational analysis of CHRNB2, CHRNA2 and CHRNA4 genes in Chinese population with autosomal dominant nocturnal frontal lobe epilepsy. ( 26309560 )
2015
5
DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy. ( 24814846 )
2014
6
Multi-electrode array study of neuronal cultures expressing nicotinic I^2-V287L subunits, linked to autosomal dominant nocturnal frontal lobe epilepsy. An in vitro model of spontaneous epilepsy. ( 25104926 )
2014
7
A transcript coding for a partially duplicated form of I+7 nicotinic acetylcholine receptor is absent from the CD4+ T-lymphocytes of patients with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). ( 23553139 )
2013
8
A novel prophylactic effect of furosemide treatment on autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). ( 24045013 )
2013
9
Autism in siblings with autosomal dominant nocturnal frontal lobe epilepsy. ( 22883468 )
2013
10
Hippocampal sclerosis worsens autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) phenotype related to CHRNB2 mutation. ( 22897520 )
2013
11
[Clinical features and mutation analysis of CHRNA4 gene for families and sporadic cases affected with autosomal dominant nocturnal frontal lobe epilepsy]. ( 24327142 )
2013
12
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. ( 23086396 )
2012
13
A case of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) coexisting with pervasive developmental disorder harboring SCN1A mutation in addition to CHRNB2 mutation. ( 23032131 )
2012
14
[Mutational analysis of CHRNB2 and CHRNA2 genes in southern Chinese population with autosomal dominant nocturnal frontal lobe epilepsy]. ( 21287502 )
2011
15
Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation. ( 21753767 )
2011
16
Altered activity-rest patterns in mice with a human autosomal-dominant nocturnal frontal lobe epilepsy mutation in the I^2 nicotinic receptor. ( 20603624 )
2011
17
Neuropsychological function in patients with a single gene mutation associated with autosomal dominant nocturnal frontal lobe epilepsy. ( 20189461 )
2010
18
Nicotine normalizes intracellular subunit stoichiometry of nicotinic receptors carrying mutations linked to autosomal dominant nocturnal frontal lobe epilepsy. ( 19237585 )
2009
19
K-complex-induced seizures in autosomal dominant nocturnal frontal lobe epilepsy. ( 18762450 )
2008
20
Autosomal dominant nocturnal frontal lobe epilepsy with a mutation in the CHRNB2 gene. ( 17900292 )
2008
21
The multifaceted role of inhibition in epilepsy: seizure-genesis through excessive GABAergic inhibition in autosomal dominant nocturnal frontal lobe epilepsy. ( 18317273 )
2008
22
Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability. ( 18479385 )
2008
23
Reduced striatal D1 receptor binding in autosomal dominant nocturnal frontal lobe epilepsy. ( 18685138 )
2008
24
Autosomal dominant nocturnal frontal lobe epilepsy and mild memory impairment associated with CHRNB2 mutation I312M in the neuronal nicotinic acetylcholine receptor. ( 18534914 )
2008
25
Further evidence of genetic heterogeneity in families with autosomal dominant nocturnal frontal lobe epilepsy. ( 17324557 )
2007
26
A major role of the nicotinic acetylcholine receptor gene CHRNA2 in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is unlikely. ( 17602836 )
2007
27
Is too much inhibition to blame in autosomal dominant nocturnal frontal lobe epilepsy? ( 17694173 )
2007
28
Nicotine-induced dystonic arousal complex in a mouse line harboring a human autosomal-dominant nocturnal frontal lobe epilepsy mutation. ( 17881519 )
2007
29
Seizures and enhanced cortical GABAergic inhibition in two mouse models of human autosomal dominant nocturnal frontal lobe epilepsy. ( 17146052 )
2006
30
Tobacco habits modulate autosomal dominant nocturnal frontal lobe epilepsy. ( 16931165 )
2006
31
Mutations linked to autosomal dominant nocturnal frontal lobe epilepsy affect allosteric Ca2+ activation of the alpha 4 beta 2 nicotinic acetylcholine receptor. ( 15901849 )
2005
32
Recent advances on autosomal dominant nocturnal frontal lobe epilepsy: "understanding the nicotinic acetylcholine receptor (nAChR)". ( 15843070 )
2005
33
Autosomal dominant nocturnal frontal lobe epilepsy--a critical overview. ( 15316796 )
2004
34
Evidence for a fourth locus for autosomal dominant nocturnal frontal lobe epilepsy. ( 15245761 )
2004
35
Genetic basis of autosomal dominant nocturnal frontal lobe epilepsy. ( 12773798 )
2003
36
Calcium and Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE). ( 15346160 )
2003
37
Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy. ( 12681012 )
2003
38
Acetazolamide and autosomal dominant nocturnal frontal lobe epilepsy. ( 12823586 )
2003
39
Schizophrenia, psychotic illness and other psychiatric symptoms in families with autosomal dominant nocturnal frontal lobe epilepsy caused by different mutations. ( 12782965 )
2003
40
Evidence for S284L mutation of the CHRNA4 in a white family with autosomal dominant nocturnal frontal lobe epilepsy. ( 12887446 )
2003
41
A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation. ( 14623738 )
2003
42
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. ( 11952766 )
2002
43
Autosomal dominant nocturnal frontal lobe epilepsy. ( 11968471 )
2002
44
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. ( 12195439 )
2002
45
Molecular modelling of the interactions of carbamazepine and a nicotinic receptor involved in the autosomal dominant nocturnal frontal lobe epilepsy. ( 12110613 )
2002
46
CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. ( 11104662 )
2001
47
Neuronal nicotinic acetylcholine receptors and autosomal dominant nocturnal frontal lobe epilepsy: a critical review. ( 11512019 )
2001
48
The macrostructure and microstructure of sleep in patients with autosomal dominant nocturnal frontal lobe epilepsy. ( 10709813 )
2000
49
A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1. ( 11094099 )
2000
50
Autosomal dominant nocturnal frontal lobe epilepsy. ( 10961640 )
2000

Variations for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CHRNA4 NM_000744.6(CHRNA4): c.839C> T (p.Ser280Phe) single nucleotide variant Pathogenic rs121909580 GRCh37 Chromosome 20, 61981924: 61981924
2 CHRNA4 CHRNA4, 3-BP INS, 776GCT insertion Pathogenic
3 CHRNA4 NM_000744.6(CHRNA4): c.851C> T (p.Ser284Leu) single nucleotide variant Pathogenic rs28931591 GRCh37 Chromosome 20, 61981912: 61981912
4 CHRNA4 NM_000744.6(CHRNA4): c.870_872dupGCT (p.Leu291_Ile292insLeu) duplication Pathogenic rs281865067 GRCh37 Chromosome 20, 61981891: 61981893
5 CHRNA4 NM_000744.6(CHRNA4): c.878C> T (p.Thr293Ile) single nucleotide variant Pathogenic rs281865066 GRCh37 Chromosome 20, 61981885: 61981885

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

7
# CNVD ID Chromosom 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 KEGG:

36
# Name Kegg Source Accession
1 Neuroactive ligand-receptor interaction hsa04080
2 Cholinergic synapse hsa04725

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
12.99 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2
2
Show member pathways
12.79 CHRNA2 CHRNA3 CHRNA4 CHRNA5
3
Show member pathways
12.7 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2
4
Show member pathways
12.41 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2
5
Show member pathways
12.28 CHRNA3 CHRNA4 CHRNB2
6
Show member pathways
11.27 CHRNA3 CHRNA4 CHRNA5 CHRNB2
7 10.97 CHRNA4 CHRNB2
8
Show member pathways
10.95 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2

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:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.91 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2 DEPDC5
2 plasma membrane GO:0005886 9.88 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2 KCNT1
3 cell junction GO:0030054 9.65 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2
4 synapse GO:0045202 9.55 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2
5 postsynaptic membrane GO:0045211 9.35 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2
6 plasma membrane raft GO:0044853 9.32 CHRNA3 CHRNB2
7 acetylcholine-gated channel complex GO:0005892 9.02 CHRNA2 CHRNA3 CHRNA4 CHRNA5 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 transmembrane transport GO:0055085 9.91 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2
2 ion transport GO:0006811 9.91 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2 KCNT1
3 ion transmembrane transport GO:0034220 9.85 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2
4 locomotory behavior GO:0007626 9.72 CHRNA3 CHRNA4 CHRNB2
5 regulation of membrane potential GO:0042391 9.71 CHRNA3 CHRNA4 CHRNB2
6 regulation of postsynaptic membrane potential GO:0060078 9.67 CHRNA2 CHRNA4 CHRNA5 CHRNB2
7 protein heterooligomerization GO:0051291 9.62 CHRNA2 CHRNB2
8 sensory perception of pain GO:0019233 9.62 CHRNA4 CHRNB2
9 response to nicotine GO:0035094 9.62 CHRNA2 CHRNA4 CHRNA5 CHRNB2
10 cognition GO:0050890 9.61 CHRNA4 CHRNB2
11 B cell activation GO:0042113 9.6 CHRNA4 CHRNB2
12 membrane depolarization GO:0051899 9.59 CHRNA4 CHRNB2
13 regulation of dopamine secretion GO:0014059 9.58 CHRNA4 CHRNB2
14 regulation of dendrite morphogenesis GO:0048814 9.58 CHRNA3 CHRNB2
15 acetylcholine receptor signaling pathway GO:0095500 9.58 CHRNA3 CHRNA4 CHRNB2
16 action potential GO:0001508 9.57 CHRNA4 CHRNB2
17 nervous system process GO:0050877 9.56 CHRNA4 CHRNB2
18 neuromuscular synaptic transmission GO:0007274 9.56 CHRNA2 CHRNA4 CHRNA5 CHRNB2
19 excitatory postsynaptic potential GO:0060079 9.55 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2
20 response to acetylcholine GO:1905144 9.49 CHRNA3 CHRNB2
21 synaptic transmission involved in micturition GO:0060084 9.48 CHRNA3 CHRNB2
22 behavioral response to nicotine GO:0035095 9.26 CHRNA3 CHRNA4 CHRNA5 CHRNB2
23 synaptic transmission, cholinergic GO:0007271 9.02 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2
24 signal transduction GO:0007165 10.01 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2
25 transport GO:0006810 10 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2 KCNT1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular ligand-gated ion channel activity GO:0005230 9.72 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2
2 ligand-gated ion channel activity GO:0015276 9.65 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2
3 acetylcholine binding GO:0042166 9.55 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2
4 drug binding GO:0008144 9.37 CHRNA2 CHRNB2
5 acetylcholine-gated cation-selective channel activity GO:0022848 9.35 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2
6 acetylcholine receptor activity GO:0015464 9.02 CHRNA2 CHRNA3 CHRNA4 CHRNA5 CHRNB2

Sources for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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70 UMLS via Orphanet
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