ENFL2
MCID: ATS327
MIFTS: 24

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2 (ENFL2)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2

MalaCards integrated aliases for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2:

Name: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2 12 15
Epilepsy, Nocturnal Frontal Lobe, Type 2 73
Nocturnal Frontal Lobe Epilepsy 2 12
Enfl2 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060683
UMLS 73 C1864125

Summaries for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2

Disease Ontology : 12 An autosomal dominant nocturnal frontal lobe epilepsy that has material basis in variation in the chromosome region 15q24.

MalaCards based summary : Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2, also known as epilepsy, nocturnal frontal lobe, type 2, is related to epilepsy, nocturnal frontal lobe, 2 and autosomal dominant nocturnal frontal lobe epilepsy. An important gene associated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2 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 Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2

Graphical network of the top 20 diseases related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2:



Diseases related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2

Symptoms & Phenotypes for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2

GenomeRNAi Phenotypes related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2 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 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2

Genetic Tests for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2

Anatomical Context for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2

Publications for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2

Variations for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2

Expression for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2

Search GEO for disease gene expression data for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2.

Pathways for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2

GO Terms for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2

Cellular components related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.33 BTNL2 CHRNA4 CHRNB2
2 integral component of presynaptic membrane GO:0099056 9.26 CHRNA4 CHRNB2
3 acetylcholine-gated channel complex GO:0005892 8.96 CHRNA4 CHRNB2
4 dopaminergic synapse GO:0098691 8.62 CHRNA4 CHRNB2

Biological processes related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2 according to GeneCards Suite gene sharing:

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

Molecular functions related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2 according to GeneCards Suite gene sharing:

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

Sources for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2

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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