MCID: SZR014
MIFTS: 24

Seizures, Benign Familial Infantile, 1

Categories: Rare diseases, Genetic diseases, Neuronal 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 53 29
Convulsions, Benign Familial Infantile, 1 57 53
Bfis1 57 53
Bfic1 57 53
Convulsions, Benign Familial Infantile, 1; Bfic1 57
Benign Familial Infantile Convulsions Syndrome 53
Benign Infantile Familial Convulsions 53
Familial Benign Neonatal Epilepsy 73
Bfic 53

Characteristics:

OMIM:

57
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:

32
seizures, benign familial infantile, 1:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 601764
MedGen 42 C0220669
SNOMED-CT via HPO 69 263681008 119419001 3415004

Summaries for Seizures, Benign Familial Infantile, 1

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 306Disease definitionBenign 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.EpidemiologyAlthough 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 descriptionSeizures 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.EtiologyBFIE 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 methodsFamily 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 diagnosisDifferential 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 counselingBFIE is transmitted as an autosomal dominanttrait with incomplete penetrance.Management and treatmentWith 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.PrognosisPrognosis is good. Seizures normally disappear after the first year of life and patients do not display any neurological sequelae.Visit the Orphanet disease page for more resources.

MalaCards based summary : Seizures, Benign Familial Infantile, 1, also known as convulsions, benign familial infantile, 1, is related to seizures, benign familial infantile, 3 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 eye, brain and testes, and related phenotypes are cyanosis and focal seizures, afebril

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)

Related Diseases for Seizures, Benign Familial Infantile, 1

Diseases in the Seizure Disorder family:

Seizures, Benign Familial Infantile, 1 Seizures, Benign Familial Infantile, 2
Seizures, Benign Familial Infantile, 3 Seizures, Benign Familial Infantile, 4
Seizures, Benign Familial Infantile, 5 Scn1a-Related Seizure Disorders

Diseases related to Seizures, Benign Familial Infantile, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 seizures, benign familial infantile, 3 11.0
2 benign familial infantile epilepsy 11.0
3 seizures, benign familial neonatal, 1 10.9
4 seizures, benign familial infantile, 2 10.9
5 epilepsy, nocturnal frontal lobe, 4 10.9
6 seizures, benign familial infantile, 5 10.9

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 cyanosis 32 HP:0000961
2 focal seizures, afebril 32 HP:0040168
3 normal interictal eeg 32 HP:0002372
4 generalized tonic-clonic seizures with focal onset 32 HP:0007334
5 dialeptic seizures 32 HP:0011146

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:

41
Eye, Brain, Testes

Publications for Seizures, Benign Familial Infantile, 1

Articles related to Seizures, Benign Familial Infantile, 1:

# Title Authors Year
1
Study of the voltage-gated sodium channel beta 1 subunit gene (SCN1B) in the benign familial infantile convulsions syndrome (BFIC). ( 10923035 )
2000

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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