ENFL3
MCID: EPL072
MIFTS: 29

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 75 13
Epilepsy, Nocturnal Frontal Lobe, Type 3 29 6 73
Enfl3 57 12 75
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 3 12 15
Epilepsy, Frontal Lobe, Nocturnal, Type 3 40
Nocturnal Frontal Lobe Epilepsy 3 12

Characteristics:

HPO:

32
epilepsy, nocturnal frontal lobe, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 605375
Disease Ontology 12 DOID:0060684
MedGen 42 C1854335
MeSH 44 D017034
UMLS 73 C1854335

Summaries for Epilepsy, Nocturnal Frontal Lobe, 3

UniProtKB/Swiss-Prot : 75 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

Clinical features from OMIM:

605375

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

32
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250

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-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 29 CHRNB2

Anatomical Context for Epilepsy, Nocturnal Frontal Lobe, 3

Publications for Epilepsy, Nocturnal Frontal Lobe, 3

Variations for Epilepsy, Nocturnal Frontal Lobe, 3

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

75
# 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 20)
# 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.936C> G (p.Ile312Met) single nucleotide variant Pathogenic rs281865071 GRCh37 Chromosome 1, 154544235: 154544235
6 CHRNB2 NM_000748.2(CHRNB2): c.1010T> G (p.Val337Gly) single nucleotide variant Pathogenic rs281865072 GRCh37 Chromosome 1, 154544309: 154544309
7 CHRNB2 NM_000748.2(CHRNB2): c.1010T> G (p.Val337Gly) single nucleotide variant Pathogenic rs281865072 GRCh38 Chromosome 1, 154571833: 154571833
8 CHRNB2 NM_000748.2(CHRNB2): c.859G> T (p.Val287Leu) single nucleotide variant Pathogenic rs74315291 GRCh37 Chromosome 1, 154544158: 154544158
9 CHRNB2 NM_000748.2(CHRNB2): c.859G> T (p.Val287Leu) single nucleotide variant Pathogenic rs74315291 GRCh38 Chromosome 1, 154571682: 154571682
10 CHRNB2 NM_000748.2(CHRNB2): c.901C> G (p.Leu301Val) single nucleotide variant Pathogenic rs281865069 GRCh37 Chromosome 1, 154544200: 154544200
11 CHRNB2 NM_000748.2(CHRNB2): c.901C> G (p.Leu301Val) single nucleotide variant Pathogenic rs281865069 GRCh38 Chromosome 1, 154571724: 154571724
12 CHRNB2 NM_000748.2(CHRNB2): c.923T> C (p.Val308Ala) single nucleotide variant Pathogenic rs281865070 GRCh37 Chromosome 1, 154544222: 154544222
13 CHRNB2 NM_000748.2(CHRNB2): c.923T> C (p.Val308Ala) single nucleotide variant Pathogenic rs281865070 GRCh38 Chromosome 1, 154571746: 154571746
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 rs55857552 GRCh37 Chromosome 1, 154544532: 154544532
16 CHRNB2 NM_000748.2(CHRNB2): c.1233G> A (p.Ala411=) single nucleotide variant 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.1291G> C (p.Val431Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs1064796396 GRCh38 Chromosome 1, 154572114: 154572114
20 CHRNB2 NM_000748.2(CHRNB2): c.1291G> C (p.Val431Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs1064796396 GRCh37 Chromosome 1, 154544590: 154544590

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 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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