MCID: EPL196
MIFTS: 33

Epilepsy, Familial Focal, with Variable Foci 1

Categories: Genetic diseases, Rare diseases, Neuronal 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 53 71 28
Ffevf 53 49 24 55 71
Familial Partial Epilepsy with Variable Foci 49 24 55
Familial Focal Epilepsy with Variable Foci 49 24 55
Epilepsy, Partial, with Variable Foci 53 13 69
Partial Epilepsy with Variable Foci 24 71
Ffevf1 53 71
Fpevf 53 71
Epilepsy, Familial Focal, with Variable Foci; Ffevf 53
Epilepsy, Familial Focal, with Variable Foci 53
Epilepsy, Partial, with Variable Foci; Fpevf 53

Characteristics:

Orphanet epidemiological data:

55
familial focal epilepsy with variable foci
Inheritance: Autosomal dominant;

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:

Orphanet: 55  
Rare neurological diseases


Summaries for Epilepsy, Familial Focal, with Variable Foci 1

OMIM : 53 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)

MalaCards based summary : Epilepsy, Familial Focal, with Variable Foci 1, also known as ffevf, is related to epilepsy, familial focal, with variable foci 2 and epilepsy, familial focal, with variable foci 3, and has symptoms including seizures, intellectual disability and autistic behavior. An important gene associated with Epilepsy, Familial Focal, with Variable Foci 1 is DEPDC5 (DEP Domain Containing 5), and among its related pathways/superpathways is mTOR signaling pathway (KEGG). Affiliated tissues include brain, temporal lobe and parietal lobe.

Genetics Home Reference : 24 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.

UniProtKB/Swiss-Prot : 71 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

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

Diseases related to Epilepsy, Familial Focal, with Variable Foci 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 epilepsy, familial focal, with variable foci 2 10.9
2 epilepsy, familial focal, with variable foci 3 10.9
3 epilepsy 10.1
4 focal epilepsy 8.9 DEPDC5 NPRL2 NPRL3

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

Symptoms via clinical synopsis from OMIM:

53
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

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

31
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 intellectual disability 31 occasional (7.5%) HP:0001249
3 autistic behavior 31 occasional (7.5%) HP:0000729

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 28 DEPDC5

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

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

38
Brain, Temporal Lobe, Parietal Lobe

Publications for Epilepsy, Familial Focal, with Variable Foci 1

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

# Title Authors Year
1
Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12. ( 10577924 )
1999
2
Familial partial epilepsy with variable foci: a new partial epilepsy syndrome with suggestion of linkage to chromosome 2. ( 9851433 )
1998

Variations for Epilepsy, Familial Focal, with Variable Foci 1

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

71
# 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

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

6 (show top 50) (show all 57)
# Gene Variation Type Significance SNP ID Assembly Location
1 DEPDC5 NM_001242896.1(DEPDC5): c.21C> G (p.Tyr7Ter) single nucleotide variant Pathogenic rs768241563 GRCh37 Chromosome 22, 32150928: 32150928
2 DEPDC5 NM_001242896.1(DEPDC5): c.1663C> T (p.Arg555Ter) single nucleotide variant Pathogenic rs587776973 GRCh37 Chromosome 22, 32211195: 32211195
3 DEPDC5 NM_001242896.1(DEPDC5): c.489_491delGTT (p.Phe164del) deletion Pathogenic rs587776974 GRCh37 Chromosome 22, 32179898: 32179900
4 DEPDC5 NM_001242896.1(DEPDC5): c.4107G> A (p.Trp1369Ter) single nucleotide variant Pathogenic rs587776975 GRCh37 Chromosome 22, 32289641: 32289641
5 DEPDC5 NM_001242896.1(DEPDC5): c.1122delA (p.Leu374PhefsTer30) deletion Pathogenic rs879255234 GRCh38 Chromosome 22, 31804202: 31804202
6 DEPDC5 NM_001242896.1(DEPDC5): c.715C> T (p.Arg239Ter) single nucleotide variant Pathogenic rs587776976 GRCh37 Chromosome 22, 32188751: 32188751
7 DEPDC5 NM_001242896.1(DEPDC5): c.982C> T (p.Arg328Ter) single nucleotide variant Pathogenic rs587776977 GRCh37 Chromosome 22, 32198725: 32198725
8 DEPDC5 NM_001242896.1(DEPDC5): c.3259C> T (p.Arg1087Ter) single nucleotide variant Pathogenic rs587777458 GRCh37 Chromosome 22, 32253534: 32253534
9 DEPDC5 NM_001242896.1(DEPDC5): c.1459C> T (p.Arg487Ter) single nucleotide variant Pathogenic rs587777459 GRCh37 Chromosome 22, 32210991: 32210991
10 DEPDC5 NM_001242896.1(DEPDC5): c.2527C> T (p.Arg843Ter) single nucleotide variant Pathogenic rs541024038 GRCh37 Chromosome 22, 32239092: 32239092
11 DEPDC5 NM_001242896.1(DEPDC5): c.2355-2A> G (p.Arg785_Gly839del) single nucleotide variant Pathogenic rs797044545 GRCh37 Chromosome 22, 32234669: 32234669
12 DEPDC5 NM_001242896.1(DEPDC5): c.4567C> T (p.Gln1523Ter) single nucleotide variant Pathogenic rs797044546 GRCh37 Chromosome 22, 32302238: 32302238
13 DEPDC5 NM_001242896.1(DEPDC5): c.418C> T (p.Gln140Ter) single nucleotide variant Pathogenic rs786205703 GRCh38 Chromosome 22, 31778103: 31778103
14 DEPDC5 NM_001242896.1(DEPDC5): c.59-1G> C single nucleotide variant Pathogenic rs886039243 GRCh38 Chromosome 22, 31758545: 31758545
15 DEPDC5 NM_001242896.1(DEPDC5): c.132dupC (p.Asn45GlnfsTer3) duplication Pathogenic rs886039244 GRCh37 Chromosome 22, 32154605: 32154605
16 DEPDC5 NM_001242896.1(DEPDC5): c.193+1G> A single nucleotide variant Pathogenic rs886039245 GRCh37 Chromosome 22, 32156689: 32156689
17 DEPDC5 NM_001242896.1(DEPDC5): c.279+1G> A single nucleotide variant Pathogenic rs886039246 GRCh37 Chromosome 22, 32161047: 32161047
18 DEPDC5 NM_001242896.1(DEPDC5): c.435G> A (p.Trp145Ter) single nucleotide variant Pathogenic rs886039247 GRCh38 Chromosome 22, 31778120: 31778120
19 DEPDC5 NM_001242896.1(DEPDC5): c.454_455delAT (p.Met152ValfsTer6) deletion Pathogenic rs886039248 GRCh37 Chromosome 22, 32174125: 32174126
20 DEPDC5 NM_001242896.1(DEPDC5): c.484-1G> A single nucleotide variant Pathogenic rs886039249 GRCh38 Chromosome 22, 31783906: 31783906
21 DEPDC5 NM_001242896.1(DEPDC5): c.492_496delTCGTT (p.Arg165TyrfsTer14) deletion Pathogenic rs886039250 GRCh38 Chromosome 22, 31783915: 31783919
22 DEPDC5 NM_001242896.1(DEPDC5): c.526C> T (p.Gln176Ter) single nucleotide variant Pathogenic rs886039251 GRCh37 Chromosome 22, 32179935: 32179935
23 DEPDC5 NM_001242896.1(DEPDC5): c.624+1G> A single nucleotide variant Pathogenic rs886039252 GRCh38 Chromosome 22, 31784876: 31784876
24 DEPDC5 NM_001242896.1(DEPDC5): c.727C> T (p.Arg243Ter) single nucleotide variant Pathogenic rs772872014 GRCh38 Chromosome 22, 31792777: 31792777
25 DEPDC5 NM_001242896.1(DEPDC5): c.730C> T (p.Gln244Ter) single nucleotide variant Pathogenic rs886039253 GRCh38 Chromosome 22, 31792780: 31792780
26 DEPDC5 NM_001242896.1(DEPDC5): c.783_786delTGAG (p.Asn261LysfsTer11) deletion Pathogenic rs886039254 GRCh37 Chromosome 22, 32193601: 32193604
27 DEPDC5 NM_001242896.1(DEPDC5): c.856C> T (p.Arg286Ter) single nucleotide variant Pathogenic rs886039255 GRCh37 Chromosome 22, 32193674: 32193674
28 DEPDC5 NM_001242896.1(DEPDC5): c.918C> G (p.Tyr306Ter) single nucleotide variant Pathogenic rs886039256 GRCh37 Chromosome 22, 32194614: 32194614
29 DEPDC5 NM_001242896.1(DEPDC5): c.985delA (p.Thr329LeufsTer7) deletion Pathogenic rs886039257 GRCh38 Chromosome 22, 31802742: 31802742
30 DEPDC5 NM_001242896.1(DEPDC5): c.1093_1099dupGATTTGG (p.Val367GlyfsTer20) duplication Pathogenic rs886039258 GRCh38 Chromosome 22, 31804173: 31804179
31 DEPDC5 NM_001242896.1(DEPDC5): c.1114C> T (p.Gln372Ter) single nucleotide variant Pathogenic rs886039259 GRCh37 Chromosome 22, 32200180: 32200180
32 DEPDC5 NM_001242896.1(DEPDC5): c.1264C> T (p.Arg422Ter) single nucleotide variant Pathogenic rs757511744 GRCh37 Chromosome 22, 32202154: 32202154
33 DEPDC5 NM_001242896.1(DEPDC5): c.1393C> T (p.Gln465Ter) single nucleotide variant Pathogenic rs886039260 GRCh38 Chromosome 22, 31810589: 31810589
34 DEPDC5 NM_001242896.1(DEPDC5): c.1555C> T (p.Gln519Ter) single nucleotide variant Pathogenic rs886039261 GRCh38 Chromosome 22, 31815101: 31815101
35 DEPDC5 NM_001242896.1(DEPDC5): c.1746_1752delCATGCTG (p.Leu584PhefsTer12) deletion Pathogenic rs886039262 GRCh37 Chromosome 22, 32215087: 32215093
36 DEPDC5 NM_001242896.1(DEPDC5): c.1759C> T (p.Arg587Ter) single nucleotide variant Pathogenic rs886039263 GRCh37 Chromosome 22, 32215100: 32215100
37 DEPDC5 NM_001242896.1(DEPDC5): c.1909C> T (p.Arg637Ter) single nucleotide variant Pathogenic/Likely pathogenic rs780960812 GRCh37 Chromosome 22, 32217526: 32217526
38 DEPDC5 NM_001242896.1(DEPDC5): c.2390delA (p.Gln797ArgfsTer18) deletion Pathogenic rs886039264 GRCh38 Chromosome 22, 31838720: 31838720
39 DEPDC5 NM_001242896.1(DEPDC5): c.2620C> T (p.Arg874Ter) single nucleotide variant Pathogenic rs578185749 GRCh38 Chromosome 22, 31843199: 31843199
40 DEPDC5 NM_001242896.1(DEPDC5): c.3046C> T (p.Gln1016Ter) single nucleotide variant Pathogenic rs886039265 GRCh37 Chromosome 22, 32242844: 32242844
41 DEPDC5 NM_001242896.1(DEPDC5): c.3444delA (p.Ile1148MetfsTer24) deletion Pathogenic rs886039266 GRCh38 Chromosome 22, 31870703: 31870703
42 DEPDC5 NM_001242896.1(DEPDC5): c.3696+5G> A single nucleotide variant Pathogenic rs886039267 GRCh37 Chromosome 22, 32270396: 32270396
43 DEPDC5 NM_001242896.1(DEPDC5): c.3802C> T (p.Arg1268Ter) single nucleotide variant Pathogenic rs886039268 GRCh37 Chromosome 22, 32272248: 32272248
44 DEPDC5 NM_001242896.1(DEPDC5): c.3994C> T (p.Arg1332Ter) single nucleotide variant Pathogenic rs886039269 GRCh37 Chromosome 22, 32275699: 32275699
45 DEPDC5 NM_001242896.1(DEPDC5): c.4033+5A> G single nucleotide variant Pathogenic rs886039270 GRCh37 Chromosome 22, 32275743: 32275743
46 DEPDC5 NM_001242896.1(DEPDC5): c.4187delC (p.Ala1396GlufsTer21) deletion Pathogenic rs886039271 GRCh38 Chromosome 22, 31893735: 31893735
47 DEPDC5 NM_001242896.1(DEPDC5): c.4260delG (p.Glu1421ArgfsTer153) deletion Pathogenic rs886039272 GRCh37 Chromosome 22, 32293524: 32293524
48 DEPDC5 NM_001242896.1(DEPDC5): c.4397G> A (p.Trp1466Ter) single nucleotide variant Pathogenic rs886039273 GRCh37 Chromosome 22, 32297749: 32297749
49 DEPDC5 NM_001242896.1(DEPDC5): c.4606C> T (p.Gln1536Ter) single nucleotide variant Pathogenic rs886039274 GRCh37 Chromosome 22, 32302277: 32302277
50 DEPDC5 NM_001242896.1(DEPDC5): c.434G> A (p.Trp145Ter) single nucleotide variant Pathogenic rs1060501488 GRCh38 Chromosome 22, 31778119: 31778119

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 GeneCards Suite gene sharing:

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

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 DEPDC5 NPRL2 NPRL3
2 lysosomal membrane GO:0005765 9.13 DEPDC5 NPRL2 NPRL3
3 GATOR1 complex GO:1990130 8.8 DEPDC5 NPRL2 NPRL3

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 DEPDC5 NPRL2 NPRL3
2 regulation of autophagosome assembly GO:2000785 9.16 NPRL2 NPRL3
3 cellular response to amino acid starvation GO:0034198 9.13 DEPDC5 NPRL2 NPRL3
4 negative regulation of TOR signaling GO:0032007 8.8 DEPDC5 NPRL2 NPRL3

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 DEPDC5 NPRL2 NPRL3

Sources for Epilepsy, Familial Focal, with Variable Foci 1

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