ENFL2
MCID: EPL202
MIFTS: 19

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 58
Epilepsy, Nocturnal Frontal Lobe, Type 2 58 30 13 74
Enfl2 58

Characteristics:

OMIM:

58
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:

33
epilepsy, nocturnal frontal lobe, 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epilepsy, Nocturnal Frontal Lobe, 2

OMIM : 58 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)

MalaCards based summary : Epilepsy, Nocturnal Frontal Lobe, 2, also known as epilepsy, nocturnal frontal lobe, type 2, is related to autosomal dominant nocturnal frontal lobe epilepsy 2. An important gene associated with Epilepsy, Nocturnal Frontal Lobe, 2 is ENFL2 (Epilepsy, Nocturnal Frontal Lobe, Type 2). Related phenotypes are generalized tonic-clonic seizures and aggressive behavior

Related Diseases for Epilepsy, Nocturnal Frontal Lobe, 2

Diseases in the Autosomal Dominant Nocturnal Frontal Lobe Epilepsy family:

Epilepsy, Nocturnal Frontal Lobe, 1 Epilepsy, Nocturnal Frontal Lobe, 2
Epilepsy, Nocturnal Frontal Lobe, 3 Epilepsy, Nocturnal Frontal Lobe, 4
Epilepsy, Nocturnal Frontal Lobe, 5 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 4

Diseases related to Epilepsy, Nocturnal Frontal Lobe, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal dominant nocturnal frontal lobe epilepsy 2 11.1

Symptoms & Phenotypes for Epilepsy, Nocturnal Frontal Lobe, 2

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

33
# Description HPO Frequency HPO Source Accession
1 generalized tonic-clonic seizures 33 occasional (7.5%) HP:0002069
2 aggressive behavior 33 occasional (7.5%) HP:0000718
3 status epilepticus 33 occasional (7.5%) HP:0002133
4 depressivity 33 HP:0000716

Symptoms via clinical synopsis from OMIM:

58
Neurologic Behavioral Psychiatric Manifestations:
aggression (in some patients)
depression (in some patients)
behavioral disturbances (in some)

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

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 30

Anatomical Context for Epilepsy, Nocturnal Frontal Lobe, 2

Publications for Epilepsy, Nocturnal Frontal Lobe, 2

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

Sources for Epilepsy, Nocturnal Frontal Lobe, 2

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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