ENFL2
MCID: EPL202
MIFTS: 30

Epilepsy, Nocturnal Frontal Lobe, 2 (ENFL2)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Nocturnal Frontal Lobe, 2

MalaCards integrated aliases for Epilepsy, Nocturnal Frontal Lobe, 2:

Name: Epilepsy, Nocturnal Frontal Lobe, 2 57
Epilepsy, Nocturnal Frontal Lobe, Type 2 57 29 13 70
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2 12 15
Enfl2 57 12
Nocturnal Frontal Lobe Epilepsy 2 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in childhood
may be misdiagnosed as nightmares, night terrors, parasomnias, or psychiatric disorders
one family has been reported (last curated january 2013)
seizures may be refractory


HPO:

31
epilepsy, nocturnal frontal lobe, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060683
OMIM® 57 603204
OMIM Phenotypic Series 57 PS600513
MedGen 41 C1864125
UMLS 70 C1864125

Summaries for Epilepsy, Nocturnal Frontal Lobe, 2

OMIM® : 57 Nocturnal frontal lobe epilepsy-2 (ENFL2) is an autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep. Some patients may develop behavioral or psychiatric manifestations (summary by Derry et al., 2008). For a general description and a discussion of genetic heterogeneity of ENFL, see ENFL1 (600513). (603204) (Updated 20-May-2021)

MalaCards based summary : Epilepsy, Nocturnal Frontal Lobe, 2, also known as epilepsy, nocturnal frontal lobe, type 2, is related to epilepsy, nocturnal frontal lobe, 3 and reflex epilepsy. An important gene associated with Epilepsy, Nocturnal Frontal Lobe, 2 is ENFL2 (Epilepsy, Nocturnal Frontal Lobe, Type 2), and among its related pathways/superpathways are Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics and Activation of Nicotinic Acetylcholine Receptors. Related phenotypes are status epilepticus and aggressive behavior

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

Related Diseases for Epilepsy, Nocturnal Frontal Lobe, 2

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



Diseases related to Epilepsy, Nocturnal Frontal Lobe, 2

Symptoms & Phenotypes for Epilepsy, Nocturnal Frontal Lobe, 2

Human phenotypes related to Epilepsy, Nocturnal Frontal Lobe, 2:

31
# Description HPO Frequency HPO Source Accession
1 status epilepticus 31 occasional (7.5%) HP:0002133
2 aggressive behavior 31 occasional (7.5%) HP:0000718
3 bilateral tonic-clonic seizure 31 occasional (7.5%) HP:0002069
4 depressivity 31 HP:0000716

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Behavioral Psychiatric Manifestations:
depression (in some patients)
behavioral disturbances (in some)
aggression (in some patients)

Neurologic Central Nervous System:
seizures occur in clusters
seizures, focal, partial, motor
seizures, diurnal partial, rare (in some patients)
frontal lobe origin
nocturnal occurrence, usually during light sleep
more

Clinical features from OMIM®:

603204 (Updated 20-May-2021)

Drugs & Therapeutics for Epilepsy, Nocturnal Frontal Lobe, 2

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

Genetic Tests for Epilepsy, Nocturnal Frontal Lobe, 2

Genetic tests related to Epilepsy, Nocturnal Frontal Lobe, 2:

# Genetic test Affiliating Genes
1 Epilepsy, Nocturnal Frontal Lobe, Type 2 29

Anatomical Context for Epilepsy, Nocturnal Frontal Lobe, 2

Publications for Epilepsy, Nocturnal Frontal Lobe, 2

Articles related to Epilepsy, Nocturnal Frontal Lobe, 2:

# Title Authors PMID Year
1
Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability. 57
18479385 2008
2
Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. 57
9758605 1998
3
Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder. 57
7895015 1995
4
Evidence for a fourth locus for autosomal dominant nocturnal frontal lobe epilepsy. 61
15245761 2004
5
Identification of mesoderm development (mesd) candidate genes by comparative mapping and genome sequence analysis. 61
11247670 2001
6
The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. 61
11062464 2000
7
A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1. 61
11094099 2000

Variations for Epilepsy, Nocturnal Frontal Lobe, 2

Expression for Epilepsy, Nocturnal Frontal Lobe, 2

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

Pathways for Epilepsy, Nocturnal Frontal Lobe, 2

GO Terms for Epilepsy, Nocturnal Frontal Lobe, 2

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

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.13 CHRNB2 CHRNA4 BTNL2
2 acetylcholine-gated channel complex GO:0005892 8.62 CHRNB2 CHRNA4

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

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

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

# Name GO ID Score Top Affiliating Genes
1 neurotransmitter receptor activity GO:0030594 9.37 CHRNB2 CHRNA4
2 extracellular ligand-gated ion channel activity GO:0005230 9.32 CHRNB2 CHRNA4
3 ligand-gated ion channel activity GO:0015276 9.26 CHRNB2 CHRNA4
4 acetylcholine-gated cation-selective channel activity GO:0022848 9.16 CHRNB2 CHRNA4
5 acetylcholine receptor activity GO:0015464 8.96 CHRNB2 CHRNA4
6 acetylcholine binding GO:0042166 8.62 CHRNB2 CHRNA4

Sources for Epilepsy, Nocturnal Frontal Lobe, 2

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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