FFEVF3
MCID: EPL192
MIFTS: 27

Epilepsy, Familial Focal, with Variable Foci 3 (FFEVF3)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Familial Focal, with Variable Foci 3

MalaCards integrated aliases for Epilepsy, Familial Focal, with Variable Foci 3:

Name: Epilepsy, Familial Focal, with Variable Foci 3 57 72 29 6
Ffevf3 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
incomplete penetrance
onset in early childhood

Inheritance:
autosomal dominant


HPO:

31
epilepsy, familial focal, with variable foci 3:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

OMIM® 57 617118
OMIM Phenotypic Series 57 PS604364
MeSH 44 D004828

Summaries for Epilepsy, Familial Focal, with Variable Foci 3

OMIM® : 57 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. Seizure types commonly include temporal lobe epilepsy (TLE), frontal lobe epilepsy (FLE), and nocturnal frontal lobe epilepsy (NFLE). A subset of patients have structural brain abnormalities, particularly focal cortical dysplasia (FCD). There is significant incomplete penetrance, with many unaffected mutation carriers within a family (summary by Ricos et al., 2016). For a discussion of genetic heterogeneity of FFEVF, see FFEVF1 (604364). (617118) (Updated 20-May-2021)

MalaCards based summary : Epilepsy, Familial Focal, with Variable Foci 3, also known as ffevf3, is related to epilepsy and hemoglobinopathy. An important gene associated with Epilepsy, Familial Focal, with Variable Foci 3 is NPRL3 (NPR3 Like, GATOR1 Complex Subunit). Affiliated tissues include temporal lobe, and related phenotypes are focal cortical dysplasia and focal cortical dysplasia type iia

UniProtKB/Swiss-Prot : 72 Epilepsy, familial focal, with variable foci 3: 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.

Related Diseases for Epilepsy, Familial Focal, with Variable Foci 3

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

Diseases related to Epilepsy, Familial Focal, with Variable Foci 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 epilepsy 9.7 NPRL3 HBA-LCR
2 hemoglobinopathy 9.6 NPRL3 HBA-LCR
3 alpha-thalassemia 9.6 NPRL3 HBA-LCR
4 disease of mental health 9.5 NPRL3 HBA-LCR

Symptoms & Phenotypes for Epilepsy, Familial Focal, with Variable Foci 3

Human phenotypes related to Epilepsy, Familial Focal, with Variable Foci 3:

31
# Description HPO Frequency HPO Source Accession
1 focal cortical dysplasia 31 very rare (1%) HP:0032046
2 focal cortical dysplasia type iia 31 very rare (1%) HP:0032052
3 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures, focal
temporal lobe epilepsy
frontal lobe epilepsy
focal cortical dysplasia (in some patients)
nocturnal frontal lobe epilepsy

Clinical features from OMIM®:

617118 (Updated 20-May-2021)

Drugs & Therapeutics for Epilepsy, Familial Focal, with Variable Foci 3

Search Clinical Trials , NIH Clinical Center for Epilepsy, Familial Focal, with Variable Foci 3

Genetic Tests for Epilepsy, Familial Focal, with Variable Foci 3

Genetic tests related to Epilepsy, Familial Focal, with Variable Foci 3:

# Genetic test Affiliating Genes
1 Epilepsy, Familial Focal, with Variable Foci 3 29 NPRL3

Anatomical Context for Epilepsy, Familial Focal, with Variable Foci 3

MalaCards organs/tissues related to Epilepsy, Familial Focal, with Variable Foci 3:

40
Temporal Lobe

Publications for Epilepsy, Familial Focal, with Variable Foci 3

Articles related to Epilepsy, Familial Focal, with Variable Foci 3:

# Title Authors PMID Year
1
Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia. 6 57
27173016 2016
2
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. 57 6
26505888 2016
3
Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3. 6 57
26285051 2016
4
Genomic diagnostics within a medically underserved population: efficacy and implications. 6
28726809 2018
5
Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3. 6
26786403 2016

Variations for Epilepsy, Familial Focal, with Variable Foci 3

ClinVar genetic disease variations for Epilepsy, Familial Focal, with Variable Foci 3:

6 (show top 50) (show all 264)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NPRL3 , HBA-LCR NM_001077350.3(NPRL3):c.1070del (p.Pro357fs) Deletion Pathogenic 254361 rs886037962 GRCh37: 16:142685-142685
GRCh38: 16:92687-92687
2 NPRL3 , HBA-LCR NM_001077350.3(NPRL3):c.1375_1376dup (p.Ser460fs) Duplication Pathogenic 254359 rs886037960 GRCh37: 16:138863-138864
GRCh38: 16:88865-88866
3 NPRL3 , HBA-LCR NM_001077350.3(NPRL3):c.835dup (p.Ser279fs) Duplication Pathogenic 254357 rs886037958 GRCh37: 16:148231-148232
GRCh38: 16:98233-98234
4 NPRL3 , HBA-LCR NM_001077350.3(NPRL3):c.1270C>T (p.Arg424Ter) SNV Pathogenic 254360 rs886037961 GRCh37: 16:139792-139792
GRCh38: 16:89794-89794
5 NPRL3 , HBA-LCR NC_000016.10:g.(?_130502)_(130611_?)del Deletion Pathogenic 476212 GRCh37: 16:180501-180610
GRCh38: 16:130502-130611
6 NPRL3 , HBA-LCR NM_001077350.3(NPRL3):c.138C>G (p.Tyr46Ter) SNV Pathogenic 542792 rs1021001959 GRCh37: 16:180571-180571
GRCh38: 16:130572-130572
7 NPRL3 , HBA-LCR NM_001077350.3(NPRL3):c.922_923dup (p.Gln308fs) Duplication Pathogenic 542798 rs1555441032 GRCh37: 16:148143-148144
GRCh38: 16:98145-98146
8 NPRL3 , HBA-LCR NC_000016.10:g.(?_130502)_(138287_?)del Deletion Pathogenic 542815 GRCh37: 16:180501-188286
GRCh38: 16:130502-138287
9 NPRL3 NC_000016.9:g.(?_160503)_(162794_?)del Deletion Pathogenic 542816 GRCh37: 16:160503-162794
GRCh38:
10 NPRL3 , HBA-LCR NM_001077350.3(NPRL3):c.1270dup (p.Arg424fs) Duplication Pathogenic 566936 rs1567129567 GRCh37: 16:139791-139792
GRCh38: 16:89793-89794
11 NPRL3 , HBA-LCR NM_001077350.3(NPRL3):c.94C>T (p.Gln32Ter) SNV Pathogenic 581844 rs1567152003 GRCh37: 16:188173-188173
GRCh38: 16:138174-138174
12 NPRL3 NC_000016.9:g.(?_136684)_(188286_?)del Deletion Pathogenic 583997 GRCh37: 16:136684-188286
GRCh38:
13 NPRL3 , HBA-LCR NM_001077350.3(NPRL3):c.496G>T (p.Glu166Ter) SNV Pathogenic 643442 rs1596522300 GRCh37: 16:162672-162672
GRCh38: 16:112673-112673
14 NPRL3 , HBA-LCR NM_001077350.3(NPRL3):c.341del (p.Pro114fs) Deletion Pathogenic 648035 rs1596526976 GRCh37: 16:167352-167352
GRCh38: 16:117353-117353
15 NPRL3 , HBA-LCR NM_001077350.3(NPRL3):c.924G>C (p.Gln308His) SNV Pathogenic 648294 rs1596505517 GRCh37: 16:148143-148143
GRCh38: 16:98145-98145
16 NPRL3 , HBA-LCR NM_001077350.3(NPRL3):c.954C>G (p.Tyr318Ter) SNV Pathogenic 652768 rs1596500172 GRCh37: 16:143294-143294
GRCh38: 16:93296-93296
17 NPRL3 , HBA-LCR NC_000016.10:g.(?_98125)_(100529_?)del Deletion Pathogenic 654677 GRCh37: 16:148123-150527
GRCh38: 16:98125-100529
18 NPRL3 NC_000016.9:g.(?_148123)_(188286_?)del Deletion Pathogenic 832174 GRCh37: 16:148123-188286
GRCh38:
19 NPRL3 NC_000016.10:g.(?_138130)_(138287_?)del Deletion Pathogenic 832358 GRCh37: 16:188129-188286
GRCh38:
20 NPRL3 NC_000016.10:g.(?_89693)_(100529_?)del Deletion Pathogenic 832843 GRCh37: 16:139691-150527
GRCh38:
21 NPRL3 NC_000016.9:g.(?_136684)_(162794_?)del Deletion Pathogenic 830471 GRCh37: 16:136684-162794
GRCh38:
22 NPRL3 , HBA-LCR NM_001077350.3(NPRL3):c.1211_1245del (p.Ile404fs) Deletion Pathogenic 850891 GRCh37: 16:139817-139851
GRCh38: 16:89819-89853
23 NPRL3 , HBA-LCR NM_001077350.3(NPRL3):c.481C>T (p.Gln161Ter) SNV Pathogenic 845588 GRCh37: 16:162687-162687
GRCh38: 16:112688-112688
24 NPRL3 , HBA-LCR NM_001077350.3(NPRL3):c.931C>T (p.Gln311Ter) SNV Pathogenic 846683 GRCh37: 16:143317-143317
GRCh38: 16:93319-93319
25 NPRL3 , HBA-LCR NM_001077350.3(NPRL3):c.1332_1333dup (p.Leu445fs) Duplication Pathogenic 854706 GRCh37: 16:139728-139729
GRCh38: 16:89730-89731
26 NPRL3 , HBA-LCR NM_001077350.3(NPRL3):c.377del (p.Val126fs) Deletion Pathogenic 817393 rs1596526915 GRCh37: 16:167316-167316
GRCh38: 16:117317-117317
27 NPRL3 , HBA-LCR NM_001077350.3(NPRL3):c.349del (p.Glu117fs) Deletion Pathogenic 861113 GRCh37: 16:167344-167344
GRCh38: 16:117345-117345
28 NPRL3 , HBA-LCR NM_001077350.3(NPRL3):c.1230_1231del (p.Cys411fs) Deletion Pathogenic 979191 GRCh37: 16:139831-139832
GRCh38: 16:89833-89834
29 NPRL3 , HBA-LCR NM_001077350.3(NPRL3):c.1025dup (p.Cys343fs) Duplication Pathogenic 859188 GRCh37: 16:143222-143223
GRCh38: 16:93224-93225
30 NPRL3 , HBA-LCR NM_001077350.3(NPRL3):c.1213C>T (p.Gln405Ter) SNV Pathogenic 943684 GRCh37: 16:139849-139849
GRCh38: 16:89851-89851
31 NPRL3 , HBA-LCR NM_001077350.3(NPRL3):c.1372del (p.Leu458fs) Deletion Pathogenic 944018 GRCh37: 16:138868-138868
GRCh38: 16:88870-88870
32 NPRL3 , HBA-LCR NM_001077350.3(NPRL3):c.644del (p.Gly215fs) Deletion Pathogenic 946477 GRCh37: 16:150493-150493
GRCh38: 16:100495-100495
33 NPRL3 , HBA-LCR NM_001077350.3(NPRL3):c.44del (p.Ser15fs) Deletion Pathogenic 949866 GRCh37: 16:188223-188223
GRCh38: 16:138224-138224
34 NPRL3 , HBA-LCR NM_001077350.3(NPRL3):c.244C>T (p.Gln82Ter) SNV Pathogenic 957130 GRCh37: 16:169199-169199
GRCh38: 16:119200-119200
35 NPRL3 , HBA-LCR NM_001077350.3(NPRL3):c.1156C>T (p.Gln386Ter) SNV Pathogenic 958271 GRCh37: 16:142599-142599
GRCh38: 16:92601-92601
36 NPRL3 , HBA-LCR NM_001077350.3(NPRL3):c.1352-4_1352-1delinsTGACCCATCC Indel Pathogenic 254358 rs886037959 GRCh37: 16:138889-138892
GRCh38: 16:88891-88894
37 NPRL3 , HBA-LCR NM_001077350.3(NPRL3):c.423_426del (p.Leu142fs) Deletion Pathogenic/Likely pathogenic 577957 rs1567139896 GRCh37: 16:162742-162745
GRCh38: 16:112743-112746
38 NPRL3 , HBA-LCR NM_001077350.3(NPRL3):c.925-2A>G SNV Likely pathogenic 579716 rs1431914212 GRCh37: 16:143325-143325
GRCh38: 16:93327-93327
39 NPRL3 , HBA-LCR NM_001077350.3(NPRL3):c.767+1G>T SNV Likely pathogenic 580189 rs1567134495 GRCh37: 16:150369-150369
GRCh38: 16:100371-100371
40 NPRL3 , HBA-LCR NM_001077350.3(NPRL3):c.469G>T (p.Glu157Ter) SNV Likely pathogenic 637995 rs1596522356 GRCh37: 16:162699-162699
GRCh38: 16:112700-112700
41 NPRL3 , HBA-LCR NM_001077350.3(NPRL3):c.980C>T (p.Pro327Leu) SNV Likely pathogenic 847490 GRCh37: 16:143268-143268
GRCh38: 16:93270-93270
42 NPRL3 , HBA-LCR NM_001077350.3(NPRL3):c.547+1G>A SNV Likely pathogenic 841459 GRCh37: 16:162620-162620
GRCh38: 16:112621-112621
43 NPRL3 , HBA-LCR NM_001077350.3(NPRL3):c.301C>T (p.Gln101Ter) SNV Likely pathogenic 803143 rs1596528731 GRCh37: 16:169142-169142
GRCh38: 16:119143-119143
44 NPRL3 , HBA-LCR NM_001077350.3(NPRL3):c.591_629+634del Deletion Likely pathogenic 845406 GRCh37: 16:159889-160561
GRCh38: 16:109891-110563
45 NPRL3 , HBA-LCR NM_001077350.3(NPRL3):c.434T>C (p.Leu145Pro) SNV Likely pathogenic 976081 GRCh37: 16:162734-162734
GRCh38: 16:112735-112735
46 NPRL3 , HBA-LCR NM_001077350.3(NPRL3):c.630-1G>A SNV Likely pathogenic 976382 GRCh37: 16:150508-150508
GRCh38: 16:100510-100510
47 NPRL3 , HBA-LCR NM_001077350.3(NPRL3):c.547+1G>C SNV Likely pathogenic 976437 GRCh37: 16:162620-162620
GRCh38: 16:112621-112621
48 NPRL3 , HBA-LCR NM_001077350.3(NPRL3):c.925-1G>C SNV Likely pathogenic 855061 GRCh37: 16:143324-143324
GRCh38: 16:93326-93326
49 NPRL3 , HBA-LCR NM_001077350.3(NPRL3):c.1162-1G>C SNV Conflicting interpretations of pathogenicity 542800 rs751418986 GRCh37: 16:139901-139901
GRCh38: 16:89903-89903
50 NPRL3 , HBA-LCR NM_001077350.3(NPRL3):c.117A>G (p.Thr39=) SNV Uncertain significance 542801 rs764156867 GRCh37: 16:188150-188150
GRCh38: 16:138151-138151

Expression for Epilepsy, Familial Focal, with Variable Foci 3

Search GEO for disease gene expression data for Epilepsy, Familial Focal, with Variable Foci 3.

Pathways for Epilepsy, Familial Focal, with Variable Foci 3

GO Terms for Epilepsy, Familial Focal, with Variable Foci 3

Sources for Epilepsy, Familial Focal, with Variable Foci 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....