BFIS1
MCID: SZR014
MIFTS: 25

Seizures, Benign Familial Infantile, 1 (BFIS1)

Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Seizures, Benign Familial Infantile, 1

MalaCards integrated aliases for Seizures, Benign Familial Infantile, 1:

Name: Seizures, Benign Familial Infantile, 1 57 20 29 13
Convulsions, Benign Familial Infantile, 1 57 20
Bfis1 57 20
Bfic1 57 20
Convulsions, Benign Familial Infantile, 1; Bfic1 57
Benign Familial Infantile Convulsions Syndrome 20
Benign Infantile Familial Convulsions 20
Familial Benign Neonatal Epilepsy 70
Bfic 20

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
average onset 6-10 months (range 3-24)
seizures easily controlled by medications
spontaneous resolution usually after 12 months of age
genetic heterogeneity (see bfic2, )
see also benign familial neonatal-infantile convulsions (bfnis, ), which shows some phenotypic similarities


HPO:

31
seizures, benign familial infantile, 1:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

OMIM® 57 601764
OMIM Phenotypic Series 57 PS601764
MedGen 41 C4551769
UMLS 70 C0220669

Summaries for Seizures, Benign Familial Infantile, 1

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 306 Definition Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life. Epidemiology Although BFIE cases have been reported worldwide, prevalence and incidence remain unknown. In an Argentinian case series, BFIE have been listed as the third most common type of epilepsy in the first two years of life. Clinical description Seizures usually occur between 3 to 8 months of life, with clusters (8-10 a day) of repeated and brief episodes (2-5 minutes) over a few days. They are usually focal but can sometimes become generalized. Patients present with motor arrest, unresponsiveness, head and/or eye deviation to one side, staring, fluttering of eyelids, grunting, cyanosis, diffuse hypertonia and unilateral or bilateral clonic jerks of the limbs. During the interictal period, patients regain full consciousness and activity. Psychomotor development is normal. A family history of the same epilepsy is a constant finding. A syndrome called familial infantile convulsions and choreoathetosis (ICCA; see this term) has been observed in which BFIE patients present in childhood and/or adolescence with choreoathetotic dyskinetic attacks occurring spontaneously or following diverse stimuli (e.g. exercise, stress). In some rare cases, BFIE has been associated with familial or sporadic hemiplegic migraine. Etiology BFIE is a genetically heterogeneous disease. In the majority of cases, mutations in the proline-rich transmembrane protein 2 ( PRRT2 ) gene located at 16p11.2 have been found. This gene encodes a membrane protein that interacts with the presynaptic protein SNAP-25. Mutations have also been found in the SCN2A gene (2q24.3) encoding the brain sodium channel NaV1.2 and rarely in the KCNQ2 (20q13.33) and KCNQ3 (8q24) genes both encoding potassium channels. Additionally, three other chromosomal loci have been identified that are mapped to chromosome 19q, 16p and 1p. Diagnostic methods Family history can orient the diagnosis which is based on electroencephalography ( EEG ) and video recordings. Ictal EEG shows that partial seizures originate from the parietal-occipital region and that the side of the hemisphere involved can vary between episodes. Seizures can sometimes spread and involve the entire brain. During a cluster of seizures, postictal EEG shows lateralized occipito-parietal delta waves and spikes. Outside the cluster, waking and sleeping interictal EEG is normal. Interictal neurological examination and brain imaging (brain CT and/or MRI ) are normal. Genetic testing confirms the diagnosis. Differential diagnosis Differential diagnosis includes benign familial neonatal-infantile seizures (see this term), an epileptic syndrome with an intermediate onset between the neonatal and infantile age that shares overlapping clinical characteristics with BFIE and that is mainly due to mutations in the SCN2A gene. Other differential diagnoses are benign non-familial infantile seizures, benign infantile seizures associated with mild gastroenteritis and benign infantile focal epilepsy with midline spikes and waves during sleep (BIMSE) (see these terms). Genetic counseling BFIE is transmitted as an autosomal dominant trait with incomplete penetrance. Management and treatment With anti-epileptic treatment (e.g. carbamazepine, valproate, phenobarbital), symptoms quickly disappear and no other type of epilepsy has been reported to reappear. In patients with a clear familial history the treatment can be interrupted within a few months. Prognosis Prognosis is good. Seizures normally disappear after the first year of life and patients do not display any neurological sequelae.

MalaCards based summary : Seizures, Benign Familial Infantile, 1, also known as convulsions, benign familial infantile, 1, is related to convulsions, familial infantile, with paroxysmal choreoathetosis and benign familial infantile epilepsy, and has symptoms including cyanosis An important gene associated with Seizures, Benign Familial Infantile, 1 is BFIS1 (Benign Familial Infantile Convulsions). Affiliated tissues include brain and eye, and related phenotypes are apnea and focal impaired awareness seizure

OMIM® : 57 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 to 1 side and progressing to generalized motor arrest and hypotonia, apnea and cyanosis, and limb jerks. Seizures usually occur in clusters over a day or several days. The ictal EEG shows focal parietal-temporal activity, whereas the interictal EEG is normal. Concurrent and subsequent psychomotor and neurologic development are normal (Franzoni et al., 2005). See also benign familial neonatal seizures (BFNS1; 121200). Deprez et al. (2009) provided a review of the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm. (601764) (Updated 05-Apr-2021)

Related Diseases for Seizures, Benign Familial Infantile, 1

Graphical network of the top 20 diseases related to Seizures, Benign Familial Infantile, 1:



Diseases related to Seizures, Benign Familial Infantile, 1

Symptoms & Phenotypes for Seizures, Benign Familial Infantile, 1

Human phenotypes related to Seizures, Benign Familial Infantile, 1:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 apnea 31 HP:0002104
2 focal impaired awareness seizure 31 HP:0002384
3 cyanosis 31 HP:0000961
4 focal-onset seizure 31 HP:0007359
5 generalized-onset seizure 31 HP:0002197
6 normal interictal eeg 31 HP:0002372
7 bilateral tonic-clonic seizure with focal onset 31 HP:0007334

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Respiratory:
cyanosis
apnea during seizure spells

Neurologic Central Nervous System:
normal interictal eeg
normal psychomotor development
seizures, partial, afebrile
secondary generalized tonic-clonic seizures may occur
seizures, generalized, afebrile
more

Clinical features from OMIM®:

601764 (Updated 05-Apr-2021)

UMLS symptoms related to Seizures, Benign Familial Infantile, 1:


cyanosis

Drugs & Therapeutics for Seizures, Benign Familial Infantile, 1

Search Clinical Trials , NIH Clinical Center for Seizures, Benign Familial Infantile, 1

Genetic Tests for Seizures, Benign Familial Infantile, 1

Genetic tests related to Seizures, Benign Familial Infantile, 1:

# Genetic test Affiliating Genes
1 Seizures, Benign Familial Infantile, 1 29

Anatomical Context for Seizures, Benign Familial Infantile, 1

MalaCards organs/tissues related to Seizures, Benign Familial Infantile, 1:

40
Brain, Eye

Publications for Seizures, Benign Familial Infantile, 1

Articles related to Seizures, Benign Familial Infantile, 1:

# Title Authors PMID Year
1
Genetics of epilepsy syndromes starting in the first year of life. 57
19153375 2009
2
Clinical features of benign infantile convulsions: familial and sporadic cases. 57
16217066 2005
3
Study of the voltage-gated sodium channel beta 1 subunit gene (SCN1B) in the benign familial infantile convulsions syndrome (BFIC). 57
10923035 2000
4
Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q. 57
9147652 1997
5
Benign infantile familial convulsions are not an allelic form of the benign familial neonatal convulsions gene. 57
8154876 1994
6
Benign infantile epilepsy with autosomal dominant inheritance. 57
8048696 1994
7
Benign familial infantile epilepsy. 57
8410514 1993
8
Benign infantile familial convulsions. 57
1505581 1992
9
Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions. 61
22399141 2012

Variations for Seizures, Benign Familial Infantile, 1

Expression for Seizures, Benign Familial Infantile, 1

Search GEO for disease gene expression data for Seizures, Benign Familial Infantile, 1.

Pathways for Seizures, Benign Familial Infantile, 1

GO Terms for Seizures, Benign Familial Infantile, 1

Sources for Seizures, Benign Familial Infantile, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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