BFIS5
MCID: SZR020
MIFTS: 29

Seizures, Benign Familial Infantile, 5 (BFIS5)

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

Aliases & Classifications for Seizures, Benign Familial Infantile, 5

MalaCards integrated aliases for Seizures, Benign Familial Infantile, 5:

Name: Seizures, Benign Familial Infantile, 5 57 72 29 6
Bfis5 57 72
Convulsions, Benign Familial Infantile, 5; Bfic5 57
Convulsions, Benign Familial Infantile, 5 57
Benign Familial Infantile Convulsions 5 72
Bfic5 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset between 6 and 12 months
seizures are well-controlled by sodium channel blockers
seizures tend to remit by age 2 years
some patients may have single seizures later in childhood
favorable prognosis


HPO:

31
seizures, benign familial infantile, 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 617080
OMIM Phenotypic Series 57 PS601764
MeSH 44 D020936
SNOMED-CT via HPO 68 263681008 54200006

Summaries for Seizures, Benign Familial Infantile, 5

OMIM® : 57 Benign familial infantile seizures-5 (BFIS5) is an autosomal dominant neurologic disorder characterized by onset of afebrile seizures during infancy. In most cases, the seizures remit by age 2 years, although some patients may have single or a few seizures later in childhood. The seizures respond well to treatment with sodium channel blockers, and patients have normal subsequent psychomotor development. Some patients may develop paroxysmal kinesigenic dyskinesia around puberty (summary by Gardella et al., 2016 and Anand et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (601764). (617080) (Updated 20-May-2021)

MalaCards based summary : Seizures, Benign Familial Infantile, 5, also known as bfis5, is related to cognitive impairment with or without cerebellar ataxia and infancy electroclinical syndrome. An important gene associated with Seizures, Benign Familial Infantile, 5 is SCN8A (Sodium Voltage-Gated Channel Alpha Subunit 8), and among its related pathways/superpathways are L1CAM interactions and Interaction between L1 and Ankyrins. Affiliated tissues include eye, and related phenotype is bilateral tonic-clonic seizure.

UniProtKB/Swiss-Prot : 72 Seizures, benign familial infantile, 5: A form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS5 inheritance is autosomal dominant.

Related Diseases for Seizures, Benign Familial Infantile, 5

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, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 cognitive impairment with or without cerebellar ataxia 9.9 SCN8A LOC114803470
2 infancy electroclinical syndrome 9.8 SCN8A KCNQ3
3 benign familial neonatal epilepsy 9.8 SCN8A KCNQ3
4 benign neonatal seizures 9.8 SCN8A KCNQ3
5 childhood electroclinical syndrome 9.8 SCN8A KCNQ3
6 neonatal period electroclinical syndrome 9.7 SCN8A KCNQ3
7 benign familial infantile epilepsy 9.7 SCN8A KCNQ3
8 lennox-gastaut syndrome 9.7 SCN8A KCNQ3
9 episodic ataxia 9.7 SCN8A KCNQ3
10 early myoclonic encephalopathy 9.7 SCN8A KCNQ3
11 autosomal dominant nocturnal frontal lobe epilepsy 9.7 SCN8A KCNQ3
12 generalized epilepsy with febrile seizures plus 9.7 SCN8A KCNQ3
13 dravet syndrome 9.7 SCN8A KCNQ3
14 epilepsy, idiopathic generalized 9.7 SCN8A KCNQ3
15 childhood absence epilepsy 9.7 SCN8A KCNQ3
16 long qt syndrome 1 9.7 SCN8A KCNQ3
17 long qt syndrome 9.6 SCN8A KCNQ3
18 benign epilepsy with centrotemporal spikes 9.6 SCN8A KCNQ3
19 west syndrome 9.6 SCN8A KCNQ3
20 migraine with or without aura 1 9.5 SCN8A KCNQ3
21 early infantile epileptic encephalopathy 9.5 SCN8A LOC114803470 KCNQ3
22 seizure disorder 9.4 SCN8A KCNQ3

Graphical network of the top 20 diseases related to Seizures, Benign Familial Infantile, 5:



Diseases related to Seizures, Benign Familial Infantile, 5

Symptoms & Phenotypes for Seizures, Benign Familial Infantile, 5

Human phenotypes related to Seizures, Benign Familial Infantile, 5:

31
# Description HPO Frequency HPO Source Accession
1 bilateral tonic-clonic seizure 31 HP:0002069

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
generalized tonic-clonic seizures
seizures, afebrile
focal seizures with impaired consciousness
paroxysmal kinesigenic choreoathetosis (in some patients)

Clinical features from OMIM®:

617080 (Updated 20-May-2021)

Drugs & Therapeutics for Seizures, Benign Familial Infantile, 5

Search Clinical Trials , NIH Clinical Center for Seizures, Benign Familial Infantile, 5

Genetic Tests for Seizures, Benign Familial Infantile, 5

Genetic tests related to Seizures, Benign Familial Infantile, 5:

# Genetic test Affiliating Genes
1 Seizures, Benign Familial Infantile, 5 29 SCN8A

Anatomical Context for Seizures, Benign Familial Infantile, 5

MalaCards organs/tissues related to Seizures, Benign Familial Infantile, 5:

40
Eye

Publications for Seizures, Benign Familial Infantile, 5

Articles related to Seizures, Benign Familial Infantile, 5:

# Title Authors PMID Year
1
Autosomal dominant SCN8A mutation with an unusually mild phenotype. 6 57
27210545 2016
2
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. 57 6
26677014 2016
3
A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy. 6
24874546 2014

Variations for Seizures, Benign Familial Infantile, 5

ClinVar genetic disease variations for Seizures, Benign Familial Infantile, 5:

6 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNQ3 NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) SNV Pathogenic 205963 rs796052676 GRCh37: 8:133192493-133192493
GRCh38: 8:132180246-132180246
2 SCN8A NM_001330260.2(SCN8A):c.4447G>A (p.Glu1483Lys) SNV Pathogenic 253195 rs879255652 GRCh37: 12:52184209-52184209
GRCh38: 12:51790425-51790425
3 SCN8A NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) SNV Pathogenic 130252 rs587780455 GRCh37: 12:52200900-52200900
GRCh38: 12:51807116-51807116
4 SCN8A NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln) SNV Pathogenic 135651 GRCh37: 12:52159459-52159459
GRCh38: 12:51765675-51765675
5 SCN8A NM_001330260.2(SCN8A):c.615-186A>G SNV Likely pathogenic 689732 rs1592380687 GRCh37: 12:52082603-52082603
GRCh38: 12:51688819-51688819
6 SCN8A NM_001330260.2(SCN8A):c.615-165G>A SNV Likely pathogenic 689734 rs1592380699 GRCh37: 12:52082624-52082624
GRCh38: 12:51688840-51688840
7 SCN8A NM_001330260.2(SCN8A):c.2300C>T (p.Thr767Ile) SNV Likely pathogenic 208500 rs797045013 GRCh37: 12:52145307-52145307
GRCh38: 12:51751523-51751523
8 SCN8A NM_001330260.2(SCN8A):c.4877G>A (p.Arg1626His) SNV Likely pathogenic 290005 GRCh37: 12:52200147-52200147
GRCh38: 12:51806363-51806363
9 SCN8A NM_001330260.2(SCN8A):c.5606T>C (p.Met1869Thr) SNV Likely pathogenic 420831 rs1064794727 GRCh37: 12:52200876-52200876
GRCh38: 12:51807092-51807092
10 SCN8A NM_001330260.2(SCN8A):c.457A>C (p.Asn153His) SNV Uncertain significance 207139 rs796053232 GRCh37: 12:52080213-52080213
GRCh38: 12:51686429-51686429
11 SCN8A NM_001330260.2(SCN8A):c.3164G>A (p.Arg1055Gln) SNV Uncertain significance 436670 rs756127631 GRCh37: 12:52162911-52162911
GRCh38: 12:51769127-51769127
12 SCN8A NM_001330260.2(SCN8A):c.5479A>G (p.Ile1827Val) SNV Uncertain significance 579919 rs764115258 GRCh37: 12:52200749-52200749
GRCh38: 12:51806965-51806965
13 LOC114803470 , SCN8A NM_001330260.2(SCN8A):c.71A>G (p.Asn24Ser) SNV Uncertain significance 626165 rs769269501 GRCh37: 12:52056672-52056672
GRCh38: 12:51662888-51662888
14 SCN8A NM_001330260.2(SCN8A):c.548G>C (p.Cys183Ser) SNV Uncertain significance 1029254 GRCh37: 12:52080937-52080937
GRCh38: 12:51687153-51687153
15 SCN8A NM_001330260.2(SCN8A):c.4634C>T (p.Thr1545Ile) SNV Uncertain significance 548028 rs759753811 GRCh37: 12:52188264-52188264
GRCh38: 12:51794480-51794480

UniProtKB/Swiss-Prot genetic disease variations for Seizures, Benign Familial Infantile, 5:

72
# Symbol AA change Variation ID SNP ID
1 SCN8A p.Asn1877Ser VAR_076617 rs587780455
2 SCN8A p.Glu1483Lys VAR_076927 rs879255652

Expression for Seizures, Benign Familial Infantile, 5

Search GEO for disease gene expression data for Seizures, Benign Familial Infantile, 5.

Pathways for Seizures, Benign Familial Infantile, 5

Pathways related to Seizures, Benign Familial Infantile, 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.05 SCN8A KCNQ3
2 10.1 SCN8A KCNQ3

GO Terms for Seizures, Benign Familial Infantile, 5

Cellular components related to Seizures, Benign Familial Infantile, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon initial segment GO:0043194 8.96 SCN8A KCNQ3
2 node of Ranvier GO:0033268 8.62 SCN8A KCNQ3

Biological processes related to Seizures, Benign Familial Infantile, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 8.96 SCN8A KCNQ3
2 regulation of ion transmembrane transport GO:0034765 8.62 SCN8A KCNQ3

Molecular functions related to Seizures, Benign Familial Infantile, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 8.96 SCN8A KCNQ3
2 voltage-gated ion channel activity GO:0005244 8.62 SCN8A KCNQ3

Sources for Seizures, Benign Familial Infantile, 5

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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