Epilepsy, Familial Focal, with Variable Foci 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 617935

OMIM Phenotypic Series ⁵⁶ PS604364

MeSH ⁴³ D004828

MedGen ⁴¹ C4693694 CN244552

SNOMED-CT via HPO ⁶⁸ 128613002 162294008 224958001 more

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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)

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

Diseases in the Epilepsy, Familial Focal, with Variable Foci 1 family:

Epilepsy, Familial Focal, with Variable Foci 2	Epilepsy, Familial Focal, with Variable Foci 3
Epilepsy, Familial Focal, with Variable Foci 4

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

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

³¹

#	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

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

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

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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

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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

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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. ⁵⁶ ⁶	Zaman T...Goldberg EM	29466837	2018
2	SCN3A deficiency associated with increased seizure susceptibility. ⁵⁶ ⁶	Lamar T...Kearney JA	28235671	2017
3	Novel SCN3A variants associated with focal epilepsy in children. ⁵⁶ ⁶	Vanoye CG...Kearney JA	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	Celle ME...Tassano E	24080482	2013

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Genes for Epilepsy, Familial Focal, with Variable Foci 4

Genes related to Epilepsy, Familial Focal, with Variable Foci 4 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SCN3A	Sodium Voltage-Gated Channel Alpha Subunit 3	Protein Coding	1319.46	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	24157691 29466837 28235671

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Variations for Epilepsy, Familial Focal, with Variable Foci 4

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

⁶ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	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, LEU247PRO	undetermined 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

#	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

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Expression for Epilepsy, Familial Focal, with Variable Foci 4

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

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Pathways for Epilepsy, Familial Focal, with Variable Foci 4

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

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⁷¹ UMLS

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

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

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

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

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Epilepsy, Familial Focal, with Variable Foci 4

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

Diseases in the Epilepsy, Familial Focal, with Variable Foci 1 family:

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

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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics 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:

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

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

Publications for Epilepsy, Familial Focal, with Variable Foci 4

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

Genes for Epilepsy, Familial Focal, with Variable Foci 4

Genes related to Epilepsy, Familial Focal, with Variable Foci 4 (1 elite genes):

Variations for Epilepsy, Familial Focal, with Variable Foci 4

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

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

Expression 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