SEIZURES, BENIGN FAMILIAL INFANTILE, 1

General Information (adopted from Orphanet):

Synonyms, Signs: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 1
BFIC1
BFIS1
Number of Symptoms 12
OrphanetNr:
OMIM Id: 601764
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:0002372) Normal interictal EEG 5 / 7739
2
(HPO:0002197) Generalized seizures 30 / 7739
3
(HPO:0007359) Focal seizures 27 / 7739
4
(HPO:0000961) Cyanosis 60 / 7739
5
(OMIM) Secondary generalized tonic-clonic seizures may occur 2 / 7739
6
(OMIM) Seizures occur in clusters over 1 or several days 2 / 7739
7
(OMIM) Normal psychomotor development 8 / 7739
8
(OMIM) Ictal EEG shows focal onset in central, parietal, or temporal regions 1 / 7739
9
(OMIM) Staring episodes during seizures 2 / 7739
10
(OMIM) Hypertonia and rigidity during seizures 1 / 7739
11
(OMIM) Seizures often begin focally with head and eye deviation 2 / 7739
12
(OMIM) Apnea during seizure spells 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Benign familial infantile seizures (BFIS) is a seizure disorder of early childhood with age at onset from 3 months up to 24 months. It is characterized by brief seizures beginning with slow deviation of the head and eyes ...
Clinical Description OMIM Benign familial infantile convulsions was described by Vigevano et al. (1992) in 5 families of Italian ancestry. Affected children had seizure onset between 4 and 6 months; seizures occurred in clusters and showed good response to pharmacologic treatment. ...
Molecular genetics OMIM - Exclusion Studies

Moulard et al. (2000) did not identify any mutations in the SCN1B gene (600235) in 10 Caucasian BFIC probands from western Europe, Mutations in the SCN1B gene have been shown to cause generalized ...