EPILEPSY, NOCTURNAL FRONTAL LOBE, 2

General Information (adopted from Orphanet):

Synonyms, Signs: ENFL2
Number of Symptoms 14
OrphanetNr:
OMIM Id: 603204
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000718) Aggressive behavior rare [HPO:skoehler] 109 / 7739
2
(HPO:0002133) Status epilepticus rare [HPO:skoehler] 59 / 7739
3
(HPO:0000716) Depression 99 / 7739
4
(HPO:0002069) Generalized tonic-clonic seizures rare [HPO:skoehler] 96 / 7739
5
(HPO:0000708) Behavioral abnormality 212 / 7739
6
(OMIM) Vocalizations 2 / 7739
7
(OMIM) Dystonic posturing 4 / 7739
8
(OMIM) Seizures, focal, partial, motor 2 / 7739
9
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
10
(OMIM) Hypermotor automatisms 2 / 7739
11
(OMIM) Seizures, diurnal partial, rare (in some patients) 1 / 7739
12
(OMIM) Seizures occur in clusters 4 / 7739
13
(OMIM) Frontal lobe origin 1 / 7739
14
(OMIM) Nocturnal occurrence, usually during light sleep 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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). ...
Clinical Description OMIM Derry et al. (2008) reported a large multigenerational family of English descent (family A) with nocturnal frontal lobe epilepsy associated in some with psychiatric disorders and cognitive impairment. The family had previously been reported as family C by ...