FFEVF2
MCID: EPL187
MIFTS: 24

Epilepsy, Familial Focal, with Variable Foci 2 (FFEVF2)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Familial Focal, with Variable Foci 2

MalaCards integrated aliases for Epilepsy, Familial Focal, with Variable Foci 2:

Name: Epilepsy, Familial Focal, with Variable Foci 2 57 72 29 6
Ffevf2 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 2:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

OMIM® 57 617116
OMIM Phenotypic Series 57 PS604364
MeSH 44 D004828

Summaries for Epilepsy, Familial Focal, with Variable Foci 2

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). (617116) (Updated 20-May-2021)

MalaCards based summary : Epilepsy, Familial Focal, with Variable Foci 2, also known as ffevf2, is related to epiphyseal chondrodysplasia, miura type and acromesomelic dysplasia. An important gene associated with Epilepsy, Familial Focal, with Variable Foci 2 is NPRL2 (NPR2 Like, GATOR1 Complex Subunit). Affiliated tissues include temporal lobe, and related phenotypes are focal cortical dysplasia and seizure

UniProtKB/Swiss-Prot : 72 Epilepsy, familial focal, with variable foci 2: 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 2

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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 epiphyseal chondrodysplasia, miura type 9.6 SPAG8 NPR2
2 acromesomelic dysplasia 9.6 SPAG8 NPR2
3 acromesomelic dysplasia, maroteaux type 9.5 SPAG8 NPR2

Symptoms & Phenotypes for Epilepsy, Familial Focal, with Variable Foci 2

Human phenotypes related to Epilepsy, Familial Focal, with Variable Foci 2:

31
# Description HPO Frequency HPO Source Accession
1 focal cortical dysplasia 31 very rare (1%) HP:0032046
2 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®:

617116 (Updated 20-May-2021)

Drugs & Therapeutics for Epilepsy, Familial Focal, with Variable Foci 2

Search Clinical Trials , NIH Clinical Center for Epilepsy, Familial Focal, with Variable Foci 2

Genetic Tests for Epilepsy, Familial Focal, with Variable Foci 2

Genetic tests related to Epilepsy, Familial Focal, with Variable Foci 2:

# Genetic test Affiliating Genes
1 Epilepsy, Familial Focal, with Variable Foci 2 29 NPRL2

Anatomical Context for Epilepsy, Familial Focal, with Variable Foci 2

MalaCards organs/tissues related to Epilepsy, Familial Focal, with Variable Foci 2:

40
Temporal Lobe

Publications for Epilepsy, Familial Focal, with Variable Foci 2

Articles related to Epilepsy, Familial Focal, with Variable Foci 2:

# 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

Variations for Epilepsy, Familial Focal, with Variable Foci 2

ClinVar genetic disease variations for Epilepsy, Familial Focal, with Variable Foci 2:

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NPRL2 NM_006545.5(NPRL2):c.68_69del (p.Ile23fs) Deletion Pathogenic 254365 rs886037966 GRCh37: 3:50388015-50388016
GRCh38: 3:50350584-50350585
2 NPRL2 NM_006545.5(NPRL2):c.883C>T (p.Arg295Ter) SNV Pathogenic 254363 rs886037964 GRCh37: 3:50385604-50385604
GRCh38: 3:50348173-50348173
3 NPRL2 NM_006545.5(NPRL2):c.314T>C (p.Leu105Pro) SNV Pathogenic 254364 rs886037965 GRCh37: 3:50387121-50387121
GRCh38: 3:50349690-50349690
4 NPRL2 NM_006545.5(NPRL2):c.445_448+3del Deletion Likely pathogenic 692035 rs1575562076 GRCh37: 3:50386814-50386820
GRCh38: 3:50349383-50349389
5 NPR2 NM_003995.3(NPR2):c.1032T>G (p.Tyr344Ter) SNV Likely pathogenic 800931 rs1588057922 GRCh37: 9:35800063-35800063
GRCh38: 9:35800066-35800066
6 NPR2 , SPAG8 NM_172312.2(SPAG8):c.1373-527C>T SNV Likely pathogenic 800932 rs771373457 GRCh37: 9:35808830-35808830
GRCh38: 9:35808833-35808833
7 NPR2 , SPAG8 NM_172312.2(SPAG8):c.1373-527C>A SNV Likely pathogenic 418389 rs771373457 GRCh37: 9:35808830-35808830
GRCh38: 9:35808833-35808833
8 NPRL2 NM_006545.5(NPRL2):c.491dup (p.Asp165fs) Duplication Likely pathogenic 931493 GRCh37: 3:50386398-50386399
GRCh38: 3:50348967-50348968
9 NPRL2 NM_006545.5(NPRL2):c.932+1G>A SNV Likely pathogenic 986339 GRCh37: 3:50385554-50385554
GRCh38: 3:50348123-50348123
10 NPR2 , SPAG8 NM_003995.4(NPR2):c.3059G>A (p.Arg1020Gln) SNV Uncertain significance 992991 GRCh37: 9:35809225-35809225
GRCh38: 9:35809228-35809228
11 NPRL2 NM_006545.5(NPRL2):c.602A>C (p.Asp201Ala) SNV Uncertain significance 548578 rs202157450 GRCh37: 3:50386197-50386197
GRCh38: 3:50348766-50348766
12 NPRL2 NM_006545.5(NPRL2):c.233G>T (p.Arg78Leu) SNV Uncertain significance 625281 rs1559857717 GRCh37: 3:50387202-50387202
GRCh38: 3:50349771-50349771
13 NPRL2 NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter) SNV Uncertain significance 254362 rs886037963 GRCh37: 3:50387432-50387432
GRCh38: 3:50350001-50350001

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Familial Focal, with Variable Foci 2:

72
# Symbol AA change Variation ID SNP ID
1 NPRL2 p.Leu105Pro VAR_077122 rs886037965

Expression for Epilepsy, Familial Focal, with Variable Foci 2

Search GEO for disease gene expression data for Epilepsy, Familial Focal, with Variable Foci 2.

Pathways for Epilepsy, Familial Focal, with Variable Foci 2

GO Terms for Epilepsy, Familial Focal, with Variable Foci 2

Biological processes related to Epilepsy, Familial Focal, with Variable Foci 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 8.62 NPRL2 NPR2

Molecular functions related to Epilepsy, Familial Focal, with Variable Foci 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 8.62 NPRL2 NPR2

Sources for Epilepsy, Familial Focal, with Variable Foci 2

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
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