SEIZURES, BENIGN FAMILIAL INFANTILE, 2

General Information (adopted from Orphanet):

Synonyms, Signs: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 2
BFIC2
BFIS2
Number of Symptoms 9
OrphanetNr:
OMIM Id: 605751
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:0002076) Migraine rare [HPO:skoehler] 41 / 7739
2
(HPO:0007359) Focal seizures 27 / 7739
3
(HPO:0002197) Generalized seizures 30 / 7739
4
(HPO:0003829) Incomplete penetrance 85 / 7739
5
(OMIM) Normal psychomotor development 8 / 7739
6
(OMIM) Seizures occur in clusters 4 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
(HPO:0040168) Focal seizures, afebril 6 / 7739
9
(OMIM) Secondary generalization may occur 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Benign familial infantile seizure is an autosomal dominant disorder characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae. Seizures usually ...
Clinical Description OMIM Caraballo et al. (2001) identified and studied 7 families with autosomal dominant BFIS. In 1 family, Caraballo et al. (2001) observed a patient who was clearly homozygous for the BFIS2 gene. Infantile convulsions did not respond well to ...
Molecular genetics OMIM In affected members of 14 (82%) of 17 families with benign familial infantile seizures-2, Heron et al. (2012) identified heterozygous mutations in the PRRT2 gene (see, e.g., 614386.0001 and 614386.0006). The 649insC mutation (614386.0001) was the most common ...