Benign familial neonatal-infantile seizures

General Information (adopted from Orphanet):

Synonyms, Signs: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL NEONATAL-INFANTILE
BFIC3
BFIS3
BFNIS
Benign neonatal-infantile epilepsy
Number of Symptoms 15
OrphanetNr: 140927
OMIM Id: 607745
ICD-10: G40.4
UMLs:
MeSH:
MedDRA: 10067866
Snomed: 230410004

Prevalence, inheritance and age of onset:

Prevalence: 10 families [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Benign partial infantile seizures
 -Rare genetic disease
 -Rare neurologic disease
Idiopathic or cryptogenic familial epileptic syndrome with identified loci/genes
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0007359) Focal seizures 27 / 7739
2
(HPO:0002372) Normal interictal EEG 5 / 7739
3
(HPO:0007334) Bilateral convulsive seizures 6 / 7739
4
(HPO:0011146) Dialeptic seizures 2 / 7739
5
(HPO:0000961) Cyanosis 60 / 7739
6
(OMIM) Rigidity during seizures 1 / 7739
7
(OMIM) Staring episodes during seizures 2 / 7739
8
(OMIM) Apnea during seizure spells 2 / 7739
9
(OMIM) Secondary generalized tonic-clonic seizures may occur 2 / 7739
10
(OMIM) Seizures often begin focally with head and eye deviation 2 / 7739
11
(HPO:0040168) Focal seizures, afebril 6 / 7739
12
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
13
(OMIM) Normal psychomotor development 8 / 7739
14
(OMIM) Ictal EEG shows focal onset, often posterior region of brain 1 / 7739
15
(OMIM) Seizures occur in clusters over 1 or several days 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Benign familial neonatal-infantile seizures is an autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae (Shevell et al., 1986).

See also benign familial infantile seizures (BFIS1; ...

Clinical Description OMIM Kaplan and Lacey (1983) reported a family in which 12 members had idiopathic neonatal or early infantile seizures inherited in an autosomal dominant pattern. Affected individuals had normal psychomotor development and did not develop subsequent seizures. At age ...
Molecular genetics OMIM In the family reported by Shevell et al. (1986) and Lewis et al. (1996), and in a second family in which seizure onset occurred predominantly after 1 month of age, Heron et al. (2002) found mutations in the ...