FFEVF2
MCID: EPL187
MIFTS: 19

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 58 76 30 6
Ffevf2 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
onset in early childhood


HPO:

33
epilepsy, familial focal, with variable foci 2:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 617116
MeSH 45 D004828

Summaries for Epilepsy, Familial Focal, with Variable Foci 2

OMIM : 58 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)

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

UniProtKB/Swiss-Prot : 76 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

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

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

33
# Description HPO Frequency HPO Source Accession
1 focal cortical dysplasia 33 very rare (1%) HP:0032046
2 seizures 33 HP:0001250

Symptoms via clinical synopsis from OMIM:

58
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

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 30 NPRL2

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

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

42
Temporal Lobe, Brain, Occipital Lobe

Publications for Epilepsy, Familial Focal, with Variable Foci 2

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

# Title Authors Year
1
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. ( 26505888 )
2016
2
Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia. ( 27173016 )
2016

Variations for Epilepsy, Familial Focal, with Variable Foci 2

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

76
# Symbol AA change Variation ID SNP ID
1 NPRL2 p.Leu105Pro VAR_077122 rs886037965

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

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 NPRL2 NM_006545.4(NPRL2): c.100C> T (p.Arg34Ter) single nucleotide variant Pathogenic rs886037963 GRCh37 Chromosome 3, 50387432: 50387432
2 NPRL2 NM_006545.4(NPRL2): c.100C> T (p.Arg34Ter) single nucleotide variant Pathogenic rs886037963 GRCh38 Chromosome 3, 50350001: 50350001
3 NPRL2 NM_006545.4(NPRL2): c.883C> T (p.Arg295Ter) single nucleotide variant Pathogenic rs886037964 GRCh37 Chromosome 3, 50385604: 50385604
4 NPRL2 NM_006545.4(NPRL2): c.883C> T (p.Arg295Ter) single nucleotide variant Pathogenic rs886037964 GRCh38 Chromosome 3, 50348173: 50348173
5 NPRL2 NM_006545.4(NPRL2): c.314T> C (p.Leu105Pro) single nucleotide variant Pathogenic rs886037965 GRCh37 Chromosome 3, 50387121: 50387121
6 NPRL2 NM_006545.4(NPRL2): c.314T> C (p.Leu105Pro) single nucleotide variant Pathogenic rs886037965 GRCh38 Chromosome 3, 50349690: 50349690
7 NPRL2 NM_006545.4(NPRL2): c.68_69delTC (p.Ile23Asnfs) deletion Pathogenic rs886037966 GRCh37 Chromosome 3, 50388015: 50388016
8 NPRL2 NM_006545.4(NPRL2): c.68_69delTC (p.Ile23Asnfs) deletion Pathogenic rs886037966 GRCh38 Chromosome 3, 50350584: 50350585
9 NPRL2 NM_006545.4(NPRL2): c.602A> C (p.Asp201Ala) single nucleotide variant Uncertain significance rs202157450 GRCh38 Chromosome 3, 50348766: 50348766
10 NPRL2 NM_006545.4(NPRL2): c.602A> C (p.Asp201Ala) single nucleotide variant Uncertain significance rs202157450 GRCh37 Chromosome 3, 50386197: 50386197
11 NPRL2 NM_006545.4(NPRL2): c.233G> T (p.Arg78Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 50349771: 50349771
12 NPRL2 NM_006545.4(NPRL2): c.233G> T (p.Arg78Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 50387202: 50387202

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

Sources for Epilepsy, Familial Focal, with Variable Foci 2

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