FFEVF4
MCID: EPL220
MIFTS: 22

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 57 74 29 6
Ffevf4 57 74
Epilepsy, Familial Focal, with Variable Foci, Type 4 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
epilepsy, familial focal, with variable foci 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

MeSH 44 D004828

Summaries for Epilepsy, Familial Focal, with Variable Foci 4

UniProtKB/Swiss-Prot : 74 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 : 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)

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:

32
# Description HPO Frequency HPO Source Accession
1 global developmental delay 32 very rare (1%) HP:0001263
2 delayed speech and language development 32 very rare (1%) HP:0000750
3 seizures 32 HP:0001250
4 microcephaly 32 HP:0000252
5 abnormal autonomic nervous system physiology 32 HP:0012332

Symptoms via clinical synopsis from OMIM:

57
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:

41
Brain, Temporal Lobe, Occipital Lobe

Publications for Epilepsy, Familial Focal, with Variable Foci 4

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

# Title Authors PMID Year
1
Mutations in SCN3A cause early infantile epileptic encephalopathy. 8 71
29466837 2018
2
SCN3A deficiency associated with increased seizure susceptibility. 8 71
28235671 2017
3
Novel SCN3A variants associated with focal epilepsy in children. 8 71
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. 8
24080482 2013

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 GRCh37 Pos GRCh38 Pos
1 SCN3A NM_006922.4(SCN3A): c.2443G> A (p.Asp815Asn) single nucleotide variant Pathogenic rs755440336 2:165987876-165987876 2:165131366-165131366
2 SCN3A NM_006922.4(SCN3A): c.4114A> G (p.Met1372Val) single nucleotide variant Pathogenic rs758906955 2:165953887-165953887 2:165097377-165097377
3 SCN3A SCN3A, LEU247PRO undetermined variant Pathogenic
4 SCN3A NM_006922.4(SCN3A): c.2003G> A (p.Gly668Glu) single nucleotide variant Uncertain significance rs199975643 2:165997177-165997177 2:165140667-165140667
5 SCN3A NM_006922.4(SCN3A): c.3253A> G (p.Ile1085Val) single nucleotide variant Uncertain significance rs144957412 2:165984281-165984281 2:165127771-165127771
6 SCN3A NM_006922.4(SCN3A): c.2021G> A (p.Gly674Asp) single nucleotide variant Uncertain significance rs751294193 2:165996117-165996117 2:165139607-165139607
7 SCN3A NM_006922.4(SCN3A): c.1070G> A (p.Arg357Gln) single nucleotide variant Uncertain significance rs774195502 2:166012375-166012375 2:165155865-165155865

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

74
# 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
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30 HGMD
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34 ICD10 via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
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73 UMLS via Orphanet
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