ENFL3
MCID: EPL072
MIFTS: 32

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 57 72 13
Epilepsy, Nocturnal Frontal Lobe, Type 3 29 6 70
Enfl3 57 12 72
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 3 12 15
Epilepsy, Frontal Lobe, Nocturnal, Type 3 39
Nocturnal Frontal Lobe Epilepsy 3 12

Characteristics:

HPO:

31
epilepsy, nocturnal frontal lobe, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060684
OMIM® 57 605375
OMIM Phenotypic Series 57 PS600513
MeSH 44 D017034
MedGen 41 C1854335
UMLS 70 C1854335

Summaries for Epilepsy, Nocturnal Frontal Lobe, 3

UniProtKB/Swiss-Prot : 72 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, nocturnal frontal lobe, 2 and reflex 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 seizure 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.

More information from OMIM: 605375 PS600513

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:

31
# Description HPO Frequency HPO Source Accession
1 seizure 31 HP:0001250

Clinical features from OMIM®:

605375 (Updated 20-May-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-142 9.1 CHRNA4
2 Increased shRNA abundance (Z-score > 2) GR00366-A-15 9.1 CHRNB2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.1 CHRNB2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.1 CHRNB2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.1 CHRNA4
6 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.1 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 29 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 PMID Year
1
The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. 57 61 6
11062464 2000
2
CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. 57 6
11104662 2001
3
A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1. 6 57
11094099 2000
4
Expression of mutant beta2 nicotinic receptors during development is crucial for epileptogenesis. 57
19153075 2009
5
Evidence for a fourth locus for autosomal dominant nocturnal frontal lobe epilepsy. 61
15245761 2004

Variations for Epilepsy, Nocturnal Frontal Lobe, 3

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

6 (show all 19)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHRNB2 NM_000748.3(CHRNB2):c.859G>C (p.Val287Leu) SNV Pathogenic 17495 rs74315291 GRCh37: 1:154544158-154544158
GRCh38: 1:154571682-154571682
2 CHRNB2 NM_000748.3(CHRNB2):c.1010T>G (p.Val337Gly) SNV Pathogenic 41032 rs281865072 GRCh37: 1:154544309-154544309
GRCh38: 1:154571833-154571833
3 CHRNB2 NM_000748.3(CHRNB2):c.859G>T (p.Val287Leu) SNV Pathogenic 41033 rs74315291 GRCh37: 1:154544158-154544158
GRCh38: 1:154571682-154571682
4 CHRNB2 NM_000748.3(CHRNB2):c.901C>G (p.Leu301Val) SNV Pathogenic 41034 rs281865069 GRCh37: 1:154544200-154544200
GRCh38: 1:154571724-154571724
5 CHRNB2 NM_000748.3(CHRNB2):c.936C>G (p.Ile312Met) SNV Pathogenic 41036 rs281865071 GRCh37: 1:154544235-154544235
GRCh38: 1:154571759-154571759
6 CHRNB2 NM_000748.3(CHRNB2):c.923T>C (p.Val308Ala) SNV Pathogenic 41035 rs281865070 GRCh37: 1:154544222-154544222
GRCh38: 1:154571746-154571746
7 CHRNB2 NM_000748.3(CHRNB2):c.859G>A (p.Val287Met) SNV Pathogenic 17496 rs74315291 GRCh37: 1:154544158-154544158
GRCh38: 1:154571682-154571682
8 CHRNB2 NM_000748.3(CHRNB2):c.845T>A (p.Leu282His) SNV Likely pathogenic 1030889 GRCh37: 1:154544144-154544144
GRCh38: 1:154571668-154571668
9 CHRNB2 NM_000748.3(CHRNB2):c.329A>C (p.Lys110Thr) SNV Uncertain significance 205066 rs199885651 GRCh37: 1:154542807-154542807
GRCh38: 1:154570331-154570331
10 CHRNB2 NM_000748.3(CHRNB2):c.734del (p.Cys245fs) Deletion Uncertain significance 543531 rs780184576 GRCh37: 1:154544033-154544033
GRCh38: 1:154571557-154571557
11 CHRNB2 NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His) SNV Uncertain significance 158330 rs55685423 GRCh37: 1:154544490-154544490
GRCh38: 1:154572014-154572014
12 CHRNB2 NM_000748.3(CHRNB2):c.317G>A (p.Arg106Gln) SNV Uncertain significance 205065 rs779199533 GRCh37: 1:154542795-154542795
GRCh38: 1:154570319-154570319
13 CHRNB2 NM_000748.3(CHRNB2):c.1338+3G>T SNV Uncertain significance 430409 rs886348487 GRCh37: 1:154544640-154544640
GRCh38: 1:154572164-154572164
14 CHRNB2 NM_000748.3(CHRNB2):c.1291G>C (p.Val431Leu) SNV Uncertain significance 423390 rs1064796396 GRCh37: 1:154544590-154544590
GRCh38: 1:154572114-154572114
15 CHRNB2 NM_000748.3(CHRNB2):c.640G>A (p.Glu214Lys) SNV Uncertain significance 205069 rs780175030 GRCh37: 1:154543939-154543939
GRCh38: 1:154571463-154571463
16 CHRNB2 NM_000748.3(CHRNB2):c.1320C>A (p.Ser440Arg) SNV Uncertain significance 392288 rs1049048240 GRCh37: 1:154544619-154544619
GRCh38: 1:154572143-154572143
17 CHRNB2 NM_000748.3(CHRNB2):c.694C>T (p.Arg232Cys) SNV Uncertain significance 996914 GRCh37: 1:154543993-154543993
GRCh38: 1:154571517-154571517
18 CHRNB2 NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=) SNV Likely benign 136770 rs55857552 GRCh37: 1:154544532-154544532
GRCh38: 1:154572056-154572056
19 CHRNB2 NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu) SNV Benign 158332 rs79137415 GRCh37: 1:154548331-154548331
GRCh38: 1:154575855-154575855

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

72
# Symbol AA change Variation ID SNP ID
1 CHRNB2 p.Val287Leu VAR_012714 rs74315291
2 CHRNB2 p.Val287Met VAR_012715 rs74315291

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

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 neuron projection GO:0043005 9.26 CHRNB2 CHRNA4
2 external side of plasma membrane GO:0009897 9.16 CHRNB2 CHRNA4
3 postsynaptic membrane GO:0045211 8.96 CHRNB2 CHRNA4
4 acetylcholine-gated channel complex GO:0005892 8.62 CHRNB2 CHRNA4

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.56 CHRNB2 CHRNA4
2 chemical synaptic transmission GO:0007268 9.55 CHRNB2 CHRNA4
3 response to hypoxia GO:0001666 9.54 CHRNB2 CHRNA4
4 calcium ion transport GO:0006816 9.52 CHRNB2 CHRNA4
5 regulation of membrane potential GO:0042391 9.51 CHRNB2 CHRNA4
6 excitatory postsynaptic potential GO:0060079 9.49 CHRNB2 CHRNA4
7 sensory perception of pain GO:0019233 9.48 CHRNB2 CHRNA4
8 nervous system process GO:0050877 9.46 CHRNB2 CHRNA4
9 regulation of postsynaptic membrane potential GO:0060078 9.43 CHRNB2 CHRNA4
10 cognition GO:0050890 9.4 CHRNB2 CHRNA4
11 B cell activation GO:0042113 9.37 CHRNB2 CHRNA4
12 response to nicotine GO:0035094 9.32 CHRNB2 CHRNA4
13 regulation of dopamine secretion GO:0014059 9.26 CHRNB2 CHRNA4
14 synaptic transmission, cholinergic GO:0007271 9.16 CHRNB2 CHRNA4
15 membrane depolarization GO:0051899 8.96 CHRNB2 CHRNA4
16 behavioral response to nicotine GO:0035095 8.62 CHRNB2 CHRNA4

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 9.43 CHRNB2 CHRNA4
2 ion channel activity GO:0005216 9.4 CHRNB2 CHRNA4
3 neurotransmitter receptor activity GO:0030594 9.37 CHRNB2 CHRNA4
4 extracellular ligand-gated ion channel activity GO:0005230 9.32 CHRNB2 CHRNA4
5 ligand-gated ion channel activity GO:0015276 9.26 CHRNB2 CHRNA4
6 acetylcholine-gated cation-selective channel activity GO:0022848 9.16 CHRNB2 CHRNA4
7 acetylcholine receptor activity GO:0015464 8.96 CHRNB2 CHRNA4
8 acetylcholine binding GO:0042166 8.62 CHRNB2 CHRNA4

Sources for Epilepsy, Nocturnal Frontal Lobe, 3

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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