BFIS5
MCID: SZR020
MIFTS: 18

Seizures, Benign Familial Infantile, 5 (BFIS5)

Categories: Genetic 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 58 76 30 6
Bfis5 58 76
Convulsions, Benign Familial Infantile, 5; Bfic5 58
Convulsions, Benign Familial Infantile, 5 58
Benign Familial Infantile Convulsions 5 76
Bfic5 58

Characteristics:

OMIM:

58
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:

33
seizures, benign familial infantile, 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 617080
MeSH 45 D020936
SNOMED-CT via HPO 70 263681008 54200006

Summaries for Seizures, Benign Familial Infantile, 5

OMIM : 58 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)

MalaCards based summary : Seizures, Benign Familial Infantile, 5, is also known as bfis5. An important gene associated with Seizures, Benign Familial Infantile, 5 is SCN8A (Sodium Voltage-Gated Channel Alpha Subunit 8). Related phenotype is generalized tonic-clonic seizures.

UniProtKB/Swiss-Prot : 76 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

Symptoms & Phenotypes for Seizures, Benign Familial Infantile, 5

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

33
# Description HPO Frequency HPO Source Accession
1 generalized tonic-clonic seizures 33 HP:0002069

Symptoms via clinical synopsis from OMIM:

58
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

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 30 SCN8A

Anatomical Context for Seizures, Benign Familial Infantile, 5

Publications for Seizures, Benign Familial Infantile, 5

Articles related to Seizures, Benign Familial Infantile, 5:

# Title Authors Year
1
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. ( 26677014 )
2016
2
Autosomal dominant SCN8A mutation with an unusually mild phenotype. ( 27210545 )
2016

Variations for Seizures, Benign Familial Infantile, 5

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

76
# Symbol AA change Variation ID SNP ID
1 SCN8A p.Asn1877Ser VAR_076617 rs587780455
2 SCN8A p.Glu1483Lys VAR_076927 rs879255652

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

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN8A NM_014191.3(SCN8A): c.5630A> G (p.Asn1877Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs587780455 GRCh37 Chromosome 12, 52200900: 52200900
2 SCN8A NM_014191.3(SCN8A): c.5630A> G (p.Asn1877Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs587780455 GRCh38 Chromosome 12, 51807116: 51807116
3 SCN8A NM_014191.3(SCN8A): c.457A> C (p.Asn153His) single nucleotide variant Uncertain significance rs796053232 GRCh37 Chromosome 12, 52080213: 52080213
4 SCN8A NM_014191.3(SCN8A): c.457A> C (p.Asn153His) single nucleotide variant Uncertain significance rs796053232 GRCh38 Chromosome 12, 51686429: 51686429
5 SCN8A NM_014191.3(SCN8A): c.4447G> A (p.Glu1483Lys) single nucleotide variant Pathogenic rs879255652 GRCh37 Chromosome 12, 52184209: 52184209
6 SCN8A NM_014191.3(SCN8A): c.4447G> A (p.Glu1483Lys) single nucleotide variant Pathogenic rs879255652 GRCh38 Chromosome 12, 51790425: 51790425
7 SCN8A NM_014191.3(SCN8A): c.4877G> A (p.Arg1626His) single nucleotide variant Conflicting interpretations of pathogenicity rs886044328 GRCh37 Chromosome 12, 52200147: 52200147
8 SCN8A NM_014191.3(SCN8A): c.4877G> A (p.Arg1626His) single nucleotide variant Conflicting interpretations of pathogenicity rs886044328 GRCh38 Chromosome 12, 51806363: 51806363
9 SCN8A NM_014191.3(SCN8A): c.5606T> C (p.Met1869Thr) single nucleotide variant Likely pathogenic rs1064794727 GRCh38 Chromosome 12, 51807092: 51807092
10 SCN8A NM_014191.3(SCN8A): c.5606T> C (p.Met1869Thr) single nucleotide variant Likely pathogenic rs1064794727 GRCh37 Chromosome 12, 52200876: 52200876
11 SCN8A NM_014191.3(SCN8A): c.3164G> A (p.Arg1055Gln) single nucleotide variant Uncertain significance rs756127631 GRCh38 Chromosome 12, 51769127: 51769127
12 SCN8A NM_014191.3(SCN8A): c.3164G> A (p.Arg1055Gln) single nucleotide variant Uncertain significance rs756127631 GRCh37 Chromosome 12, 52162911: 52162911
13 SCN8A NM_014191.3(SCN8A): c.4634C> T (p.Thr1545Ile) single nucleotide variant Uncertain significance rs759753811 GRCh37 Chromosome 12, 52188264: 52188264
14 SCN8A NM_014191.3(SCN8A): c.4634C> T (p.Thr1545Ile) single nucleotide variant Uncertain significance rs759753811 GRCh38 Chromosome 12, 51794480: 51794480
15 SCN8A NM_014191.3(SCN8A): c.5479A> G (p.Ile1827Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 52200749: 52200749
16 SCN8A NM_014191.3(SCN8A): c.5479A> G (p.Ile1827Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 51806965: 51806965
17 SCN8A NM_001330260.1(SCN8A): c.71A> G (p.Asn24Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 52056672: 52056672
18 SCN8A NM_001330260.1(SCN8A): c.71A> G (p.Asn24Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 51662888: 51662888

Expression for Seizures, Benign Familial Infantile, 5

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Pathways for Seizures, Benign Familial Infantile, 5

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