EPILEPSY, NOCTURNAL FRONTAL LOBE, 3

General Information (adopted from Orphanet):

Synonyms, Signs: ENFL3
Number of Symptoms 2
OrphanetNr:
OMIM Id: 605375
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:0001250) Seizures 1245 / 7739
2
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM For a general phenotypic description of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE, ENFL), see 600513. Clustered attacks of epileptic episodes originating from the frontal lobe during sleep represent the main manifestation of ADNFLE.
Molecular genetics OMIM In affected members of a family with ADNFLE showing linkage to chromosome 1, De Fusco et al. (2000) identified a heterozygous mutations in the CHRNB2 gene (118507.0001).