FFEVF1
MCID: EPL196
MIFTS: 41

Epilepsy, Familial Focal, with Variable Foci 1 (FFEVF1)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Familial Focal, with Variable Foci 1

MalaCards integrated aliases for Epilepsy, Familial Focal, with Variable Foci 1:

Name: Epilepsy, Familial Focal, with Variable Foci 1 56 73 29 6
Familial Focal Epilepsy with Variable Foci 52 25 58 36 29 6
Ffevf 56 52 25 58 73
Familial Partial Epilepsy with Variable Foci 52 25 58
Epilepsy, Partial, with Variable Foci 56 13 71
Epilepsy, Familial Focal, with Variable Foci 56 39
Partial Epilepsy with Variable Foci 25 73
Ffevf1 56 73
Fpevf 56 73
Epilepsy, Familial Focal, with Variable Foci; Ffevf 56
Epilepsy, Partial, with Variable Foci; Fpevf 56

Characteristics:

Orphanet epidemiological data:

58
familial focal epilepsy with variable foci
Inheritance: Autosomal dominant;

OMIM:

56
Miscellaneous:
incomplete penetrance
phenotypic variability
onset usually in first or second decades
variable age at onset (range infancy to adulthood)

Inheritance:
autosomal dominant


HPO:

31
epilepsy, familial focal, with variable foci 1:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM 56 604364
OMIM Phenotypic Series 56 PS604364
KEGG 36 H02214
MeSH 43 D004828
Orphanet 58 ORPHA98820
UMLS 71 C1858477

Summaries for Epilepsy, Familial Focal, with Variable Foci 1

Genetics Home Reference : 25 Familial focal epilepsy with variable foci (FFEVF) is an uncommon form of recurrent seizures (epilepsy) that runs in families. Seizures associated with FFEVF can begin at any time from infancy to adulthood. The seizures are described as focal or partial, which means they begin in one region of the brain and do not cause a loss of consciousness. In more than 70 percent of affected individuals, these seizures begin in one of two areas of the brain, either the temporal lobe or the frontal lobe. The region of the brain where the seizures start tends to stay the same over time. In rare instances, seizure activity that starts in one area spreads to affect the entire brain and causes a loss of consciousness, muscle stiffening, and rhythmic jerking. Episodes that begin as partial seizures and spread throughout the brain are known as secondarily generalized seizures. Among family members with FFEVF, individuals may not have the same brain region affected (variable foci), meaning that one person's seizures may not begin in the same part of the brain as their affected relative. Some individuals with FFEVF also have a brain malformation called focal cortical dysplasia. Seizures in these individuals are typically not well-controlled with medication. Most people with FFEVF are intellectually normal, and there are no problems with their brain function between seizures. However, some people with FFEVF have developed psychiatric disorders (such as schizophrenia), behavioral problems, or intellectual disability. It is unclear whether these additional features are directly related to epilepsy in these individuals.

MalaCards based summary : Epilepsy, Familial Focal, with Variable Foci 1, also known as familial focal epilepsy with variable foci, is related to focal epilepsy and epilepsy. An important gene associated with Epilepsy, Familial Focal, with Variable Foci 1 is DEPDC5 (DEP Domain Containing 5, GATOR1 Subcomplex Subunit), and among its related pathways/superpathways are mTOR signaling pathway and mTOR signaling pathway (KEGG). Affiliated tissues include brain, temporal lobe and occipital lobe, and related phenotypes are intellectual disability and autistic behavior

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98820 Definition Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability , autistic spectrum disorder and obsessive-compulsive disorder have been described. Visit the Orphanet disease page for more resources.

OMIM : 56 Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions in different family members. Many patients have an aura and show automatisms during the seizures, whereas others may have nocturnal seizures. There is often secondary generalization. Some patients show abnormal interictal EEG, and some patients 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. Penetrance of the disorder is incomplete (summary by Klein et al., 2012). Detailed electrophysiologic, brain imaging, and/or histologic studies have indicated that some patients have subtle or clear evidence of focal cortical dysplasia (FCD) (Baulac et al., 2015). (604364)

KEGG : 36 Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Recently, it has been identified that mutations in the mTOR pathway regulators, DEPDC5, NPRL2 and NPRL3 cause this disease.

UniProtKB/Swiss-Prot : 73 Epilepsy, familial focal, with variable foci 1: An autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions in different family members. Many patients have an aura and show automatisms during the seizures, whereas others may have nocturnal seizures. There is often secondary generalization. Some patients show abnormal interictal EEG, and 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. Penetrance of the disorder is incomplete.

Related Diseases for Epilepsy, Familial Focal, with Variable Foci 1

Graphical network of the top 20 diseases related to Epilepsy, Familial Focal, with Variable Foci 1:



Diseases related to Epilepsy, Familial Focal, with Variable Foci 1

Symptoms & Phenotypes for Epilepsy, Familial Focal, with Variable Foci 1

Human phenotypes related to Epilepsy, Familial Focal, with Variable Foci 1:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 occasional (7.5%) HP:0001249
2 autistic behavior 31 occasional (7.5%) HP:0000729
3 nocturnal seizures 31 occasional (7.5%) HP:0031951
4 focal cortical dysplasia type i 31 very rare (1%) HP:0032047
5 focal cortical dysplasia type iia 31 very rare (1%) HP:0032052
6 hemimegalencephaly 31 HP:0007206

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
intellectual disability (in some patients)
temporal lobe epilepsy
seizure, focal or multifocal onset
parietal lobe epilepsy
frontal lobe epilepsy
more
Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder (in some patients)

Clinical features from OMIM:

604364

Drugs & Therapeutics for Epilepsy, Familial Focal, with Variable Foci 1

Search Clinical Trials , NIH Clinical Center for Epilepsy, Familial Focal, with Variable Foci 1

Genetic Tests for Epilepsy, Familial Focal, with Variable Foci 1

Genetic tests related to Epilepsy, Familial Focal, with Variable Foci 1:

# Genetic test Affiliating Genes
1 Epilepsy, Familial Focal, with Variable Foci 1 29 DEPDC5
2 Familial Focal Epilepsy with Variable Foci 29

Anatomical Context for Epilepsy, Familial Focal, with Variable Foci 1

MalaCards organs/tissues related to Epilepsy, Familial Focal, with Variable Foci 1:

40
Brain, Temporal Lobe, Occipital Lobe, Parietal Lobe

Publications for Epilepsy, Familial Focal, with Variable Foci 1

Articles related to Epilepsy, Familial Focal, with Variable Foci 1:

(show all 31)
# Title Authors PMID Year
1
A recurrent mutation in DEPDC5 predisposes to focal epilepsies in the French-Canadian population. 61 56 6
24283814 2014
2
DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy. 56 6 61
24814846 2014
3
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. 61 6 56
24585383 2014
4
Mutations in DEPDC5 cause familial focal epilepsy with variable foci. 61 56 6
23542697 2013
5
Mutations of DEPDC5 cause autosomal dominant focal epilepsies. 61 6 56
23542701 2013
6
Familial focal epilepsy with variable foci mapped to chromosome 22q12: expansion of the phenotypic spectrum. 61 6 56
22780917 2012
7
Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations. 6 56
25623524 2015
8
Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12. 56 6
15329069 2004
9
Familial partial epilepsy with variable foci in a Dutch family: clinical characteristics and confirmation of linkage to chromosome 22q. 56 6
14510823 2003
10
Dominant partial epilepsies. A clinical, electrophysiological and genetic study of 19 European families. 56 6
10825362 2000
11
Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12. 6 56
10577924 1999
12
Familial partial epilepsy with variable foci: a new partial epilepsy syndrome with suggestion of linkage to chromosome 2. 56 6
9851433 1998
13
DEPDC5-Related Epilepsy 61 6
27683934 2016
14
Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia. 56
27173016 2016
15
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. 56
26505888 2016
16
DEPDC5 mutations in genetic focal epilepsies of childhood. 56
24591017 2014
17
The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission. 56
21219302 2011
18
Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. 56
9758605 1998
19
Genetic linkage studies in familial frontal epilepsy: exclusion of the human chromosome regions homologous to the El-1 mouse locus. 56
8991790 1995
20
Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder. 56
7895015 1995
21
Magnetoencephalogram-assisted diagnosis of familial focal epilepsy with variable foci in a Chinese family with a novel DEPDC5 mutation. 61
31225799 2019
22
Inclusion of hemimegalencephaly into the phenotypic spectrum of NPRL3 pathogenic variants in familial focal epilepsy with variable foci. 61
31111464 2019
23
DEPDC5 mutation and familial focal epilepsy with variable foci: genotype and phenotype of a family. 61
30767899 2019
24
DEPDC5 takes a second hit in familial focal epilepsy. 61
29708509 2018
25
DEPDC5 mutations in familial and sporadic focal epilepsy. 61
28170089 2017
26
Two definite cases of sudden unexpected death in epilepsy in a family with a DEPDC5 mutation. 61
27066565 2015
27
DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy. 61
26216793 2015
28
Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5. 61
26000329 2015
29
Genetics advances in autosomal dominant focal epilepsies: focus on DEPDC5. 61
25194487 2014
30
Novel DEPDC5 mutations causing familial focal epilepsy with variable foci identified. 61
23869883 2013
31
Genetic etiology of new forms of familial epilepsy. 61
17981785 2008

Variations for Epilepsy, Familial Focal, with Variable Foci 1

ClinVar genetic disease variations for Epilepsy, Familial Focal, with Variable Foci 1:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DEPDC5 NM_001242897.2(DEPDC5):c.434G>A (p.Trp145Ter)SNV Pathogenic 407346 rs1060501488 22:32174105-32174105 22:31778119-31778119
2 DEPDC5 NM_001242897.2(DEPDC5):c.1845del (p.Arg615fs)deletion Pathogenic 407342 rs1060501487 22:32215185-32215185 22:31819199-31819199
3 DEPDC5 NC_000022.11:g.(?_31754902)_(31754999_?)deldeletion Pathogenic 466445 22:32150888-32150985 22:31754902-31754999
4 DEPDC5 NC_000022.10:g.(?_32154512)_(32174174_?)deldeletion Pathogenic 466446 22:32154512-32174174
5 DEPDC5 NM_001242897.2(DEPDC5):c.1385_1386del (p.Ala461_Tyr462insTer)deletion Pathogenic 466450 rs1555882921 22:32206566-32206567 22:31810580-31810581
6 DEPDC5 NM_001242897.2(DEPDC5):c.2660_2685del (p.His887fs)deletion Pathogenic 466477 rs1555900914 22:32241090-32241115 22:31845104-31845129
7 DEPDC5 NM_001242897.2(DEPDC5):c.346C>T (p.Arg116Ter)SNV Pathogenic 534806 rs1315483224 22:32162637-32162637 22:31766651-31766651
8 DEPDC5 NC_000022.11:g.(?_31809591)_(31815232_?)deldeletion Pathogenic 534830 22:32205577-32211218 22:31809591-31815232
9 DEPDC5 NC_000022.11:g.(?_31754902)_(31815232_?)deldeletion Pathogenic 534829 22:32150888-32211218 22:31754902-31815232
10 DEPDC5 NM_001242897.2(DEPDC5):c.865C>T (p.Gln289Ter)SNV Pathogenic 534791 rs759952667 22:32193683-32193683 22:31797697-31797697
11 DEPDC5 NM_001242897.2(DEPDC5):c.3247del (p.Ala1083fs)deletion Pathogenic 572795 rs1569166925 22:32269302-32269302 22:31873316-31873316
12 DEPDC5 NC_000022.11:g.(?_31758526)_(31758653_?)deldeletion Pathogenic 584322 22:32154512-32154639 22:31758526-31758653
13 DEPDC5 NM_001242897.2(DEPDC5):c.1133del (p.Pro378fs)deletion Pathogenic 573709 rs1568955379 22:32200197-32200197 22:31804211-31804211
14 DEPDC5 NM_001242897.2(DEPDC5):c.2091T>A (p.Tyr697Ter)SNV Pathogenic 571591 rs374158137 22:32233112-32233112 22:31837126-31837126
15 DEPDC5 NM_001242897.2(DEPDC5):c.784_785GA[2] (p.Arg263fs)short repeat Pathogenic 575084 rs1569523728 22:32193602-32193603 22:31797616-31797617
16 DEPDC5 NM_001242897.2(DEPDC5):c.1453C>T (p.Arg485Ter)SNV Pathogenic 577194 rs1568991466 22:32210985-32210985 22:31814999-31814999
17 DEPDC5 NM_001242897.2(DEPDC5):c.4201_4202dup (p.Gln1401fs)duplication Pathogenic 572846 rs1569254004 22:32302033-32302034 22:31906047-31906048
18 DEPDC5 NM_001242897.2(DEPDC5):c.3568C>T (p.Gln1190Ter)SNV Pathogenic 575135 rs1569186093 22:32275573-32275573 22:31879587-31879587
19 DEPDC5 NM_001242897.2(DEPDC5):c.2278C>T (p.Arg760Ter)SNV Pathogenic 590901 rs1569067939 22:32234828-32234828 22:31838842-31838842
20 DEPDC5 NM_001242897.2(DEPDC5):c.1224C>A (p.Tyr408Ter)SNV Pathogenic 646869 22:32202114-32202114 22:31806128-31806128
21 DEPDC5 NM_001242896.3(DEPDC5):c.1936dup (p.Ser646fs)duplication Pathogenic 626285 rs1569012755 22:32217552-32217553 22:31821566-31821567
22 DEPDC5 NM_001242897.2(DEPDC5):c.788_792GAAGA[1] (p.Glu265fs)short repeat Pathogenic 654814 22:32193603-32193607 22:31797617-31797621
23 DEPDC5 NM_001242896.3(DEPDC5):c.1018del (p.Val340fs)deletion Pathogenic 654060 22:32198758-32198758 22:31802772-31802772
24 DEPDC5 NM_001242896.3(DEPDC5):c.4446dup (p.Val1483fs)duplication Pathogenic 655956 22:32301976-32301977 22:31905990-31905991
25 DEPDC5 NM_001242897.2(DEPDC5):c.4201C>T (p.Gln1401Ter)SNV Pathogenic 645254 22:32302034-32302034 22:31906048-31906048
26 DEPDC5 NM_001242897.2(DEPDC5):c.3907C>T (p.Gln1303Ter)SNV Pathogenic 664598 22:32293471-32293471 22:31897485-31897485
27 DEPDC5 NC_000022.11:g.(?_31754902)_(31906517_?)deldeletion Pathogenic 647951 22:32150888-32302503 22:31754902-31906517
28 DEPDC5 NC_000022.11:g.(?_31804142)_(31810661_?)deldeletion Pathogenic 650190 22:32200128-32206647 22:31804142-31810661
29 DEPDC5 NC_000022.11:g.(?_31764955)_(31766688_?)deldeletion Pathogenic 653533 22:32160941-32162674 22:31764955-31766688
30 DEPDC5 NC_000022.11:g.(?_31754902)_(31784895_?)deldeletion Pathogenic 831884 22:32150888-32180881
31 DEPDC5 NC_000022.11:g.(?_31754902)_(31815449_?)deldeletion Pathogenic 833512 22:32150888-32211435
32 DEPDC5 NC_000022.11:g.(?_31760636)_(31760722_?)deldeletion Pathogenic 833301 22:32156622-32156708
33 DEPDC5 NC_000022.11:g.(?_31792013)_(31792122_?)deldeletion Pathogenic 831318 22:32187999-32188108
34 DEPDC5 NM_001242896.3(DEPDC5):c.319C>T (p.Gln107Ter)SNV Pathogenic 839695 22:32162610-32162610 22:31766624-31766624
35 DEPDC5 NM_001242896.3(DEPDC5):c.677dup (p.Tyr226Ter)duplication Pathogenic 842113 22:32188070-32188071 22:31792084-31792085
36 DEPDC5 NM_001242896.3(DEPDC5):c.3655dup (p.Glu1219fs)duplication Pathogenic 848497 22:32270348-32270349 22:31874362-31874363
37 DEPDC5 NM_001242896.3(DEPDC5):c.198dup (p.Ile67fs)duplication Pathogenic 916700 22:32160964-32160965 22:31764978-31764979
38 DEPDC5 NM_001242897.2(DEPDC5):c.21C>G (p.Tyr7Ter)SNV Pathogenic 50819 rs768241563 22:32150928-32150928 22:31754942-31754942
39 DEPDC5 NM_001242897.2(DEPDC5):c.1663C>T (p.Arg555Ter)SNV Pathogenic 50820 rs587776973 22:32211195-32211195 22:31815209-31815209
40 DEPDC5 NM_001242897.2(DEPDC5):c.489_491del (p.Phe164del)deletion Pathogenic 50821 rs587776974 22:32179897-32179899 22:31783911-31783913
41 DEPDC5 NM_001242897.2(DEPDC5):c.3807G>A (p.Trp1269Ter)SNV Pathogenic 50822 rs587776975 22:32289641-32289641 22:31893655-31893655
42 DEPDC5 NM_001242897.2(DEPDC5):c.1122del (p.Leu374fs)deletion Pathogenic 50823 rs879255234 22:32200188-32200188 22:31804202-31804202
43 DEPDC5 NM_001242897.2(DEPDC5):c.715C>T (p.Arg239Ter)SNV Pathogenic 50824 rs587776976 22:32188751-32188751 22:31792765-31792765
44 DEPDC5 NM_001242897.2(DEPDC5):c.982C>T (p.Arg328Ter)SNV Pathogenic 50825 rs587776977 22:32198725-32198725 22:31802739-31802739
45 DEPDC5 NM_001242897.2(DEPDC5):c.3025C>T (p.Arg1009Ter)SNV Pathogenic 139433 rs587777458 22:32253534-32253534 22:31857548-31857548
46 DEPDC5 NM_001242897.2(DEPDC5):c.1459C>T (p.Arg487Ter)SNV Pathogenic 139434 rs587777459 22:32210991-32210991 22:31815005-31815005
47 DEPDC5 NM_001242897.2(DEPDC5):c.2293C>T (p.Arg765Ter)SNV Pathogenic 180644 rs541024038 22:32239092-32239092 22:31843106-31843106
48 DEPDC5 NM_001242897.2(DEPDC5):c.2121-2A>GSNV Pathogenic 183029 rs797044545 22:32234669-32234669 22:31838683-31838683
49 DEPDC5 NM_001242897.2(DEPDC5):c.4267C>T (p.Gln1423Ter)SNV Pathogenic 183030 rs797044546 22:32302238-32302238 22:31906252-31906252
50 DEPDC5 NM_001242897.2(DEPDC5):c.418C>T (p.Gln140Ter)SNV Pathogenic 190476 rs786205703 22:32174089-32174089 22:31778103-31778103

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Familial Focal, with Variable Foci 1:

73
# Symbol AA change Variation ID SNP ID
1 DEPDC5 p.Ala452Val VAR_069263 rs202226316
2 DEPDC5 p.Arg485Gln VAR_069264 rs886039278
3 DEPDC5 p.Ser1073Arg VAR_069265 rs754608531
4 DEPDC5 p.Ser1104Leu VAR_069266 rs79027628
5 DEPDC5 p.Val90Ile VAR_072363 rs768456731
6 DEPDC5 p.Val272Leu VAR_072364 rs187334123
7 DEPDC5 p.Thr864Met VAR_072365 rs564667614
8 DEPDC5 p.Ser1162Gly VAR_072366 rs886039280

Expression for Epilepsy, Familial Focal, with Variable Foci 1

Search GEO for disease gene expression data for Epilepsy, Familial Focal, with Variable Foci 1.

Pathways for Epilepsy, Familial Focal, with Variable Foci 1

Pathways related to Epilepsy, Familial Focal, with Variable Foci 1 according to KEGG:

36
# Name Kegg Source Accession
1 mTOR signaling pathway hsa04150

Pathways related to Epilepsy, Familial Focal, with Variable Foci 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.27 NPRL3 NPRL2 DEPDC5

GO Terms for Epilepsy, Familial Focal, with Variable Foci 1

Cellular components related to Epilepsy, Familial Focal, with Variable Foci 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.33 NPRL3 NPRL2 DEPDC5
2 lysosomal membrane GO:0005765 9.13 NPRL3 NPRL2 DEPDC5
3 GATOR1 complex GO:1990130 8.8 NPRL3 NPRL2 DEPDC5

Biological processes related to Epilepsy, Familial Focal, with Variable Foci 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of GTPase activity GO:0043547 9.43 NPRL3 NPRL2 DEPDC5
2 regulation of autophagosome assembly GO:2000785 9.16 NPRL3 NPRL2
3 cellular response to amino acid starvation GO:0034198 9.13 NPRL3 NPRL2 DEPDC5
4 negative regulation of TOR signaling GO:0032007 8.8 NPRL3 NPRL2 DEPDC5

Molecular functions related to Epilepsy, Familial Focal, with Variable Foci 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GTPase activator activity GO:0005096 8.8 NPRL3 NPRL2 DEPDC5

Sources for Epilepsy, Familial Focal, with Variable Foci 1

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