MCID: EPL202
MIFTS: 14

Epilepsy, Nocturnal Frontal Lobe, 2

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 73
Enfl2 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
epilepsy, nocturnal frontal lobe, 2:
Inheritance autosomal dominant inheritance


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)

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 depressivity and generalized tonic-clonic seizures

Related Diseases for Epilepsy, Nocturnal Frontal Lobe, 2

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 10.9

Symptoms & Phenotypes for Epilepsy, Nocturnal Frontal Lobe, 2

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures, focal, partial, motor
seizures, diurnal partial, rare (in some patients)
frontal lobe origin
nocturnal occurrence, usually during light sleep
generalized tonic-clonic seizures (rare)
more
Neurologic Behavioral Psychiatric Manifestations:
behavioral disturbances (in some)
aggression (in some patients)
depression (in some patients)


Clinical features from OMIM:

603204

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

32
# Description HPO Frequency HPO Source Accession
1 depressivity 32 HP:0000716
2 generalized tonic-clonic seizures 32 occasional (7.5%) HP:0002069
3 aggressive behavior 32 occasional (7.5%) HP:0000718
4 status epilepticus 32 occasional (7.5%) HP:0002133

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

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 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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