EPILEPSY, NOCTURNAL FRONTAL LOBE, 5

General Information (adopted from Orphanet):

Synonyms, Signs: ENFL5
Number of Symptoms 17
OrphanetNr:
OMIM Id: 615005
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:0012075) Personality disorder rare [HPO:skoehler] 4 / 7739
2
(HPO:0007359) Focal seizures 27 / 7739
3
(HPO:0000709) Psychosis rare [HPO:skoehler] 61 / 7739
4
(HPO:0100543) Cognitive impairment 230 / 7739
5
(HPO:0000718) Aggressive behavior rare [HPO:skoehler] 109 / 7739
6
(HPO:0000708) Behavioral abnormality 212 / 7739
7
(HPO:0001249) Intellectual disability rare [HPO:skoehler] 1089 / 7739
8
(HPO:0002133) Status epilepticus rare [HPO:skoehler] 59 / 7739
9
(HPO:0000716) Depression 99 / 7739
10
(MedDRA:10007776) Catatonia 2 / 7739
11
(OMIM) Nocturnal occurrence 1 / 7739
12
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
13
(OMIM) Dystonic posturing 4 / 7739
14
(OMIM) Seizures, focal, partial, motor 2 / 7739
15
(OMIM) Seizures occur in clusters 4 / 7739
16
(OMIM) Vocalizations 2 / 7739
17
(OMIM) Hypermotor automatisms 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Nocturnal frontal lobe epilepsy-5 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 and/or intellectual disability. The phenotype is more severe ...
Clinical Description OMIM Derry et al. (2008) reported a family (family B) in which 6 individuals had childhood onset of partial nocturnal seizures associated with psychiatric disorders and cognitive impairment. Age at seizure onset ranged between 1 and 15 years, and ...
Molecular genetics OMIM By whole-exome capture and sequencing of patients from the family with ENFL reported by Derry et al. (2008), Heron et al. (2012) identified a heterozygous mutation in the KCNT1 gene (R928C; 608167.0005). The mutation, which was confirmed by ...