MCID: SZR020
MIFTS: 17

Seizures, Benign Familial Infantile, 5

Categories: Genetic diseases, Rare diseases, Neuronal 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 75 29 6
Bfis5 57 75
Convulsions, Benign Familial Infantile, 5; Bfic5 57
Convulsions, Benign Familial Infantile, 5 57
Benign Familial Infantile Convulsions 5 75
Bfic5 57

Characteristics:

OMIM:

57
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:

32
seizures, benign familial infantile, 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 617080
MeSH 44 D020936
SNOMED-CT via HPO 69 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)

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 : 75 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

Symptoms via clinical synopsis from OMIM:

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


Clinical features from OMIM:

617080

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

32
# Description HPO Frequency HPO Source Accession
1 generalized tonic-clonic seizures 32 HP:0002069

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

Publications for Seizures, Benign Familial Infantile, 5

Variations for Seizures, Benign Familial Infantile, 5

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

75
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN8A NM_014191.3(SCN8A): c.4447G> A (p.Glu1483Lys) single nucleotide variant Pathogenic rs879255652 GRCh37 Chromosome 12, 52184209: 52184209
2 SCN8A NM_014191.3(SCN8A): c.4447G> A (p.Glu1483Lys) single nucleotide variant Pathogenic rs879255652 GRCh38 Chromosome 12, 51790425: 51790425

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

GO Terms for Seizures, Benign Familial Infantile, 5

Sources for Seizures, Benign Familial Infantile, 5

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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