ENFL3
MCID: EPL072
MIFTS: 30

Epilepsy, Nocturnal Frontal Lobe, 3 (ENFL3)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Nocturnal Frontal Lobe, 3

MalaCards integrated aliases for Epilepsy, Nocturnal Frontal Lobe, 3:

Name: Epilepsy, Nocturnal Frontal Lobe, 3 58 76 13
Epilepsy, Nocturnal Frontal Lobe, Type 3 30 6 74
Enfl3 58 12 76
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 3 12 15
Epilepsy, Frontal Lobe, Nocturnal, Type 3 41
Nocturnal Frontal Lobe Epilepsy 3 12

Characteristics:

HPO:

33
epilepsy, nocturnal frontal lobe, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060684
OMIM 58 605375
MeSH 45 D017034
MedGen 43 C1854335
UMLS 74 C1854335

Summaries for Epilepsy, Nocturnal Frontal Lobe, 3

UniProtKB/Swiss-Prot : 76 Epilepsy, nocturnal frontal lobe, 3: An autosomal dominant focal epilepsy characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements.

MalaCards based summary : Epilepsy, Nocturnal Frontal Lobe, 3, also known as epilepsy, nocturnal frontal lobe, type 3, is related to epilepsy and autosomal dominant nocturnal frontal lobe epilepsy. An important gene associated with Epilepsy, Nocturnal Frontal Lobe, 3 is CHRNB2 (Cholinergic Receptor Nicotinic Beta 2 Subunit), and among its related pathways/superpathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics. Related phenotypes are seizures and Increased shRNA abundance (Z-score > 2)

Disease Ontology : 12 An autosomal dominant nocturnal frontal lobe epilepsy that has material basis in heterozygous mutation in the CHRNB2 gene on chromosome 1q21.

Description from OMIM: 605375

Related Diseases for Epilepsy, Nocturnal Frontal Lobe, 3

Graphical network of the top 20 diseases related to Epilepsy, Nocturnal Frontal Lobe, 3:



Diseases related to Epilepsy, Nocturnal Frontal Lobe, 3

Symptoms & Phenotypes for Epilepsy, Nocturnal Frontal Lobe, 3

Human phenotypes related to Epilepsy, Nocturnal Frontal Lobe, 3:

33
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250

Clinical features from OMIM:

605375

GenomeRNAi Phenotypes related to Epilepsy, Nocturnal Frontal Lobe, 3 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-103 9.32 CHRNA4
2 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.32 CHRNA4
3 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.32 CHRNA4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.32 CHRNB2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.32 CHRNB2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.32 CHRNB2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.32 CHRNA4
8 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.32 CHRNA4 CHRNB2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.32 CHRNB2

Drugs & Therapeutics for Epilepsy, Nocturnal Frontal Lobe, 3

Search Clinical Trials , NIH Clinical Center for Epilepsy, Nocturnal Frontal Lobe, 3

Genetic Tests for Epilepsy, Nocturnal Frontal Lobe, 3

Genetic tests related to Epilepsy, Nocturnal Frontal Lobe, 3:

# Genetic test Affiliating Genes
1 Epilepsy, Nocturnal Frontal Lobe, Type 3 30 CHRNB2

Anatomical Context for Epilepsy, Nocturnal Frontal Lobe, 3

Publications for Epilepsy, Nocturnal Frontal Lobe, 3

Articles related to Epilepsy, Nocturnal Frontal Lobe, 3:

# Title Authors Year
1
CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. ( 11104662 )
2001
2
A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1. ( 11094099 )
2000
3
The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. ( 11062464 )
2000

Variations for Epilepsy, Nocturnal Frontal Lobe, 3

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Nocturnal Frontal Lobe, 3:

76
# Symbol AA change Variation ID SNP ID
1 CHRNB2 p.Val287Leu VAR_012714 rs74315291
2 CHRNB2 p.Val287Met VAR_012715 rs74315291

ClinVar genetic disease variations for Epilepsy, Nocturnal Frontal Lobe, 3:

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHRNB2 NM_000748.2(CHRNB2): c.859G> C (p.Val287Leu) single nucleotide variant Pathogenic rs74315291 GRCh37 Chromosome 1, 154544158: 154544158
2 CHRNB2 NM_000748.2(CHRNB2): c.859G> C (p.Val287Leu) single nucleotide variant Pathogenic rs74315291 GRCh38 Chromosome 1, 154571682: 154571682
3 CHRNB2 NM_000748.2(CHRNB2): c.859G> A (p.Val287Met) single nucleotide variant Pathogenic rs74315291 GRCh37 Chromosome 1, 154544158: 154544158
4 CHRNB2 NM_000748.2(CHRNB2): c.859G> A (p.Val287Met) single nucleotide variant Pathogenic rs74315291 GRCh38 Chromosome 1, 154571682: 154571682
5 CHRNB2 NM_000748.2(CHRNB2): c.1010T> G (p.Val337Gly) single nucleotide variant Pathogenic rs281865072 GRCh37 Chromosome 1, 154544309: 154544309
6 CHRNB2 NM_000748.2(CHRNB2): c.1010T> G (p.Val337Gly) single nucleotide variant Pathogenic rs281865072 GRCh38 Chromosome 1, 154571833: 154571833
7 CHRNB2 NM_000748.2(CHRNB2): c.859G> T (p.Val287Leu) single nucleotide variant Pathogenic rs74315291 GRCh37 Chromosome 1, 154544158: 154544158
8 CHRNB2 NM_000748.2(CHRNB2): c.859G> T (p.Val287Leu) single nucleotide variant Pathogenic rs74315291 GRCh38 Chromosome 1, 154571682: 154571682
9 CHRNB2 NM_000748.2(CHRNB2): c.901C> G (p.Leu301Val) single nucleotide variant Pathogenic rs281865069 GRCh37 Chromosome 1, 154544200: 154544200
10 CHRNB2 NM_000748.2(CHRNB2): c.901C> G (p.Leu301Val) single nucleotide variant Pathogenic rs281865069 GRCh38 Chromosome 1, 154571724: 154571724
11 CHRNB2 NM_000748.2(CHRNB2): c.923T> C (p.Val308Ala) single nucleotide variant Likely pathogenic rs281865070 GRCh37 Chromosome 1, 154544222: 154544222
12 CHRNB2 NM_000748.2(CHRNB2): c.923T> C (p.Val308Ala) single nucleotide variant Likely pathogenic rs281865070 GRCh38 Chromosome 1, 154571746: 154571746
13 CHRNB2 NM_000748.2(CHRNB2): c.936C> G (p.Ile312Met) single nucleotide variant Pathogenic rs281865071 GRCh37 Chromosome 1, 154544235: 154544235
14 CHRNB2 NM_000748.2(CHRNB2): c.936C> G (p.Ile312Met) single nucleotide variant Pathogenic rs281865071 GRCh38 Chromosome 1, 154571759: 154571759
15 CHRNB2 NM_000748.2(CHRNB2): c.1233G> A (p.Ala411=) single nucleotide variant Benign/Likely benign rs55857552 GRCh37 Chromosome 1, 154544532: 154544532
16 CHRNB2 NM_000748.2(CHRNB2): c.1233G> A (p.Ala411=) single nucleotide variant Benign/Likely benign rs55857552 GRCh38 Chromosome 1, 154572056: 154572056
17 CHRNB2 NM_000748.2(CHRNB2): c.1191G> C (p.Gln397His) single nucleotide variant Conflicting interpretations of pathogenicity rs55685423 GRCh37 Chromosome 1, 154544490: 154544490
18 CHRNB2 NM_000748.2(CHRNB2): c.1191G> C (p.Gln397His) single nucleotide variant Conflicting interpretations of pathogenicity rs55685423 GRCh38 Chromosome 1, 154572014: 154572014
19 CHRNB2 NM_000748.2(CHRNB2): c.317G> A (p.Arg106Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 154570319: 154570319
20 CHRNB2 NM_000748.2(CHRNB2): c.317G> A (p.Arg106Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 154542795: 154542795
21 CHRNB2 NM_000748.2(CHRNB2): c.640G> A (p.Glu214Lys) single nucleotide variant Uncertain significance rs780175030 GRCh37 Chromosome 1, 154543939: 154543939
22 CHRNB2 NM_000748.2(CHRNB2): c.640G> A (p.Glu214Lys) single nucleotide variant Uncertain significance rs780175030 GRCh38 Chromosome 1, 154571463: 154571463
23 CHRNB2 NM_000748.2(CHRNB2): c.1291G> C (p.Val431Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs1064796396 GRCh38 Chromosome 1, 154572114: 154572114
24 CHRNB2 NM_000748.2(CHRNB2): c.1291G> C (p.Val431Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs1064796396 GRCh37 Chromosome 1, 154544590: 154544590
25 CHRNB2 NM_000748.2(CHRNB2): c.1338+3G> T single nucleotide variant Uncertain significance rs886348487 GRCh37 Chromosome 1, 154544640: 154544640
26 CHRNB2 NM_000748.2(CHRNB2): c.1338+3G> T single nucleotide variant Uncertain significance rs886348487 GRCh38 Chromosome 1, 154572164: 154572164

Expression for Epilepsy, Nocturnal Frontal Lobe, 3

Search GEO for disease gene expression data for Epilepsy, Nocturnal Frontal Lobe, 3.

Pathways for Epilepsy, Nocturnal Frontal Lobe, 3

Pathways related to Epilepsy, Nocturnal Frontal Lobe, 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.37 CHRNA4 CHRNB2
2
Show member pathways
10.96 CHRNA4 CHRNB2
3 10.23 CHRNA4 CHRNB2

GO Terms for Epilepsy, Nocturnal Frontal Lobe, 3

Cellular components related to Epilepsy, Nocturnal Frontal Lobe, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.4 CHRNA4 CHRNB2
2 neuron projection GO:0043005 9.37 CHRNA4 CHRNB2
3 external side of plasma membrane GO:0009897 9.32 CHRNA4 CHRNB2
4 postsynaptic membrane GO:0045211 9.26 CHRNA4 CHRNB2
5 integral component of presynaptic membrane GO:0099056 9.16 CHRNA4 CHRNB2
6 acetylcholine-gated channel complex GO:0005892 8.96 CHRNA4 CHRNB2
7 dopaminergic synapse GO:0098691 8.62 CHRNA4 CHRNB2

Biological processes related to Epilepsy, Nocturnal Frontal Lobe, 3 according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.61 CHRNA4 CHRNB2
2 ion transmembrane transport GO:0034220 9.6 CHRNA4 CHRNB2
3 chemical synaptic transmission GO:0007268 9.59 CHRNA4 CHRNB2
4 response to hypoxia GO:0001666 9.58 CHRNA4 CHRNB2
5 calcium ion transport GO:0006816 9.58 CHRNA4 CHRNB2
6 regulation of membrane potential GO:0042391 9.57 CHRNA4 CHRNB2
7 locomotory behavior GO:0007626 9.56 CHRNA4 CHRNB2
8 excitatory postsynaptic potential GO:0060079 9.55 CHRNA4 CHRNB2
9 sensory perception of pain GO:0019233 9.54 CHRNA4 CHRNB2
10 nervous system process GO:0050877 9.52 CHRNA4 CHRNB2
11 regulation of synaptic vesicle exocytosis GO:2000300 9.51 CHRNA4 CHRNB2
12 regulation of postsynaptic membrane potential GO:0060078 9.49 CHRNA4 CHRNB2
13 cognition GO:0050890 9.48 CHRNA4 CHRNB2
14 response to nicotine GO:0035094 9.46 CHRNA4 CHRNB2
15 neuromuscular synaptic transmission GO:0007274 9.43 CHRNA4 CHRNB2
16 regulation of dopamine secretion GO:0014059 9.4 CHRNA4 CHRNB2
17 B cell activation GO:0042113 9.37 CHRNA4 CHRNB2
18 synaptic transmission, cholinergic GO:0007271 9.32 CHRNA4 CHRNB2
19 membrane depolarization GO:0051899 9.26 CHRNA4 CHRNB2
20 action potential GO:0001508 9.16 CHRNA4 CHRNB2
21 acetylcholine receptor signaling pathway GO:0095500 8.96 CHRNA4 CHRNB2
22 behavioral response to nicotine GO:0035095 8.62 CHRNA4 CHRNB2

Molecular functions related to Epilepsy, Nocturnal Frontal Lobe, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.4 CHRNA4 CHRNB2
2 ion channel activity GO:0005216 9.37 CHRNA4 CHRNB2
3 extracellular ligand-gated ion channel activity GO:0005230 9.32 CHRNA4 CHRNB2
4 ligand-gated ion channel activity GO:0015276 9.26 CHRNA4 CHRNB2
5 acetylcholine binding GO:0042166 9.16 CHRNA4 CHRNB2
6 acetylcholine-gated cation-selective channel activity GO:0022848 8.96 CHRNA4 CHRNB2
7 acetylcholine receptor activity GO:0015464 8.62 CHRNA4 CHRNB2

Sources for Epilepsy, Nocturnal Frontal Lobe, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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