MCID: EPL220
MIFTS: 11

Epilepsy, Familial Focal, with Variable Foci 4

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Epilepsy, Familial Focal, with Variable Foci 4

MalaCards integrated aliases for Epilepsy, Familial Focal, with Variable Foci 4:

Name: Epilepsy, Familial Focal, with Variable Foci 4 57 6
Ffevf4 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in first years of life
seizures are controlled by medication
seizures may remit later in childhood


Classifications:



External Ids:

OMIM 57 617935

Summaries for Epilepsy, Familial Focal, with Variable Foci 4

OMIM : 57 FFEVF4 is an autosomal dominant seizure disorder characterized by onset of focal seizures in the first years of life. Some patients may have secondary generalization and/or mild developmental deficits (summary by Vanoye et al., 2014). For a discussion of genetic heterogeneity of FFEVF, see FFEVF1 (604364). (617935)

MalaCards based summary : Epilepsy, Familial Focal, with Variable Foci 4, is also known as ffevf4. An important gene associated with Epilepsy, Familial Focal, with Variable Foci 4 is SCN3A (Sodium Voltage-Gated Channel Alpha Subunit 3).

Related Diseases for Epilepsy, Familial Focal, with Variable Foci 4

Symptoms & Phenotypes for Epilepsy, Familial Focal, with Variable Foci 4

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
poor overall growth (patient a)

Neurologic Central Nervous System:
seizures, focal, well-controlled
delayed psychomotor development, mild (in some patients)
learning disabilities (in some patients)
speech delay (in some patients)
autonomic dysfunction (patient a)

Head And Neck Head:
microcephaly (patient a)


Clinical features from OMIM:

617935

Drugs & Therapeutics for Epilepsy, Familial Focal, with Variable Foci 4

Search Clinical Trials , NIH Clinical Center for Epilepsy, Familial Focal, with Variable Foci 4

Genetic Tests for Epilepsy, Familial Focal, with Variable Foci 4

Anatomical Context for Epilepsy, Familial Focal, with Variable Foci 4

Publications for Epilepsy, Familial Focal, with Variable Foci 4

Variations for Epilepsy, Familial Focal, with Variable Foci 4

ClinVar genetic disease variations for Epilepsy, Familial Focal, with Variable Foci 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN3A NM_006922.3(SCN3A): c.1070G> A (p.Arg357Gln) single nucleotide variant Pathogenic rs774195502 GRCh37 Chromosome 2, 166012375: 166012375
2 SCN3A NM_006922.3(SCN3A): c.1070G> A (p.Arg357Gln) single nucleotide variant Pathogenic rs774195502 GRCh38 Chromosome 2, 165155865: 165155865
3 SCN3A NM_006922.3(SCN3A): c.2443G> A (p.Asp815Asn) single nucleotide variant Pathogenic rs755440336 GRCh37 Chromosome 2, 165987876: 165987876
4 SCN3A NM_006922.3(SCN3A): c.2443G> A (p.Asp815Asn) single nucleotide variant Pathogenic rs755440336 GRCh38 Chromosome 2, 165131366: 165131366
5 SCN3A NM_006922.3(SCN3A): c.4114A> G (p.Met1372Val) single nucleotide variant Pathogenic rs758906955 GRCh37 Chromosome 2, 165953887: 165953887
6 SCN3A NM_006922.3(SCN3A): c.4114A> G (p.Met1372Val) single nucleotide variant Pathogenic rs758906955 GRCh38 Chromosome 2, 165097377: 165097377
7 SCN3A SCN3A, LEU247PRO undetermined variant Pathogenic

Expression for Epilepsy, Familial Focal, with Variable Foci 4

Search GEO for disease gene expression data for Epilepsy, Familial Focal, with Variable Foci 4.

Pathways for Epilepsy, Familial Focal, with Variable Foci 4

GO Terms for Epilepsy, Familial Focal, with Variable Foci 4

Sources for Epilepsy, Familial Focal, with Variable Foci 4

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
Content
Loading form....