SEIZURES, BENIGN FAMILIAL NEONATAL, 2

General Information (adopted from Orphanet):

Synonyms, Signs: CONVULSIONS, BENIGN FAMILIAL NEONATAL, 2
BFNC2
BFNS2
Number of Symptoms 6
OrphanetNr:
OMIM Id: 121201
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
2
 (HPO:0002266) Focal clonic seizures 3 / 7739
3
 (HPO:0001250) Seizures 1245 / 7739
4
 (OMIM) Normal psychomotor development 8 / 7739
5
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
 (OMIM) Increased risk of seizures in childhood or adulthood (11-16%) 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM In an affected member of a large BFNC family previously reported by Ryan et al. (1991) and Lewis et al. (1993), Charlier et al. (1998) identified a mutation in the KCNQ3 gene (602232.0001) that cosegregated with the BFNC ...