FFEVF4
MCID: EPL220
MIFTS: 23

Epilepsy, Familial Focal, with Variable Foci 4 (FFEVF4)

Categories: Genetic diseases, Neuronal diseases, Rare 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 56 73 29 6
Ffevf4 56 73
Epilepsy, Familial Focal, with Variable Foci, Type 4 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
epilepsy, familial focal, with variable foci 4:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epilepsy, Familial Focal, with Variable Foci 4

UniProtKB/Swiss-Prot : 73 Epilepsy, familial focal, with variable foci 4: An autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy, frontal lobe epilepsy, and nocturnal frontal lobe epilepsy. Some patients may have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. A subset of patients have structural brain abnormalities. Penetrance of the disorder is incomplete. FFEVF4 is characterized by onset of focal seizures in the first years of life.

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). Affiliated tissues include brain, temporal lobe and occipital lobe, and related phenotypes are global developmental delay and delayed speech and language development

OMIM : 56 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)

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

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

Human phenotypes related to Epilepsy, Familial Focal, with Variable Foci 4:

31 (showing 5, show less)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 very rare (1%) HP:0001263
2 delayed speech and language development 31 very rare (1%) HP:0000750
3 seizures 31 HP:0001250
4 microcephaly 31 HP:0000252
5 abnormal autonomic nervous system physiology 31 HP:0012332

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
speech delay (in some patients)
learning disabilities (in some patients)
delayed psychomotor development, mild (in some patients)
seizures, focal, well-controlled
autonomic dysfunction (patient a)

Head And Neck Head:
microcephaly (patient a)

Growth Other:
poor overall growth (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

Genetic tests related to Epilepsy, Familial Focal, with Variable Foci 4:

# Genetic test Affiliating Genes
1 Epilepsy, Familial Focal, with Variable Foci 4 29 SCN3A

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

MalaCards organs/tissues related to Epilepsy, Familial Focal, with Variable Foci 4:

40
Brain, Temporal Lobe, Occipital Lobe

Publications for Epilepsy, Familial Focal, with Variable Foci 4

Articles related to Epilepsy, Familial Focal, with Variable Foci 4:

(showing 4, show less)
# Title Authors PMID Year
1
Mutations in SCN3A cause early infantile epileptic encephalopathy. 56 6
29466837 2018
2
SCN3A deficiency associated with increased seizure susceptibility. 56 6
28235671 2017
3
Novel SCN3A variants associated with focal epilepsy in children. 56 6
24157691 2014
4
Interstitial 2q24.3 deletion including SCN2A and SCN3A genes in a patient with autistic features, psychomotor delay, microcephaly and no history of seizures. 56
24080482 2013

Variations for Epilepsy, Familial Focal, with Variable Foci 4

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

6 (showing 7, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN3A NM_006922.4(SCN3A):c.2443G>A (p.Asp815Asn)SNV Pathogenic 522564 rs755440336 2:165987876-165987876 2:165131366-165131366
2 SCN3A NM_006922.4(SCN3A):c.4114A>G (p.Met1372Val)SNV Pathogenic 522565 rs758906955 2:165953887-165953887 2:165097377-165097377
3 SCN3A SCN3A, LEU247PROundetermined variant Pathogenic 522566
4 SCN3A NM_006922.4(SCN3A):c.2003G>A (p.Gly668Glu)SNV Conflicting interpretations of pathogenicity 194238 rs199975643 2:165997177-165997177 2:165140667-165140667
5 SCN3A NM_006922.4(SCN3A):c.3253A>G (p.Ile1085Val)SNV Uncertain significance 194858 rs144957412 2:165984281-165984281 2:165127771-165127771
6 SCN3A NM_006922.4(SCN3A):c.2021G>A (p.Gly674Asp)SNV Uncertain significance 240708 rs751294193 2:165996117-165996117 2:165139607-165139607
7 SCN3A NM_006922.4(SCN3A):c.1070G>A (p.Arg357Gln)SNV Uncertain significance 522563 rs774195502 2:166012375-166012375 2:165155865-165155865

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Familial Focal, with Variable Foci 4:

73 (showing 3, show less)
# Symbol AA change Variation ID SNP ID
1 SCN3A p.Leu247Pro VAR_080503
2 SCN3A p.Arg357Gln VAR_080504 rs774195502
3 SCN3A p.Glu1160Lys VAR_080507 rs377632429

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 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....