MCID: EPL192
MIFTS: 16

Epilepsy, Familial Focal, with Variable Foci 3

Categories: Genetic diseases, Rare diseases, Neuronal 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 75 29 6
Ffevf3 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in early childhood
incomplete penetrance


HPO:

32
epilepsy, familial focal, with variable foci 3:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

OMIM 57 617118
MeSH 44 D004828
SNOMED-CT via HPO 69 263681008

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)

MalaCards based summary : Epilepsy, Familial Focal, with Variable Foci 3, is also known as ffevf3. An important gene associated with Epilepsy, Familial Focal, with Variable Foci 3 is NPRL3 (NPR3 Like, GATOR1 Complex Subunit). Affiliated tissues include temporal lobe, occipital lobe and brain.

UniProtKB/Swiss-Prot : 75 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

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

Symptoms via clinical synopsis from OMIM:

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


Clinical features from OMIM:

617118

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:

41
Temporal Lobe, Occipital Lobe, Brain

Publications for Epilepsy, Familial Focal, with Variable Foci 3

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 102)
# Gene Variation Type Significance SNP ID Assembly Location
1 NPRL3 NM_001077350.2(NPRL3): c.835_836insT (p.Ser279Phefs) insertion Pathogenic rs886037958 GRCh37 Chromosome 16, 148232: 148232
2 NPRL3 NM_001077350.2(NPRL3): c.835_836insT (p.Ser279Phefs) insertion Pathogenic rs886037958 GRCh38 Chromosome 16, 98234: 98234
3 NPRL3 NM_001243248.1(NPRL3): c.1277-4_1277-1delACAGinsTGACCCATCC indel Pathogenic rs886037959 GRCh38 Chromosome 16, 88891: 88894
4 NPRL3 NM_001243248.1(NPRL3): c.1277-4_1277-1delACAGinsTGACCCATCC indel Pathogenic rs886037959 GRCh37 Chromosome 16, 138889: 138892
5 NPRL3 NM_001077350.2(NPRL3): c.1376_1377insAC (p.Ser460Profs) insertion Pathogenic rs886037960 GRCh37 Chromosome 16, 138863: 138864
6 NPRL3 NM_001077350.2(NPRL3): c.1376_1377insAC (p.Ser460Profs) insertion Pathogenic rs886037960 GRCh38 Chromosome 16, 88865: 88866
7 NPRL3 NM_001077350.2(NPRL3): c.1270C> T (p.Arg424Ter) single nucleotide variant Pathogenic rs886037961 GRCh38 Chromosome 16, 89794: 89794
8 NPRL3 NM_001077350.2(NPRL3): c.1270C> T (p.Arg424Ter) single nucleotide variant Pathogenic rs886037961 GRCh37 Chromosome 16, 139792: 139792
9 NPRL3 NM_001077350.2(NPRL3): c.1070delC (p.Pro357Hisfs) deletion Pathogenic rs886037962 GRCh38 Chromosome 16, 92687: 92687
10 NPRL3 NM_001077350.2(NPRL3): c.1070delC (p.Pro357Hisfs) deletion Pathogenic rs886037962 GRCh37 Chromosome 16, 142685: 142685
11 NPRL3 NM_001077350.2(NPRL3): c.1486G> A (p.Ala496Thr) single nucleotide variant Benign/Likely benign rs58036849 GRCh37 Chromosome 16, 138755: 138755
12 NPRL3 NM_001077350.2(NPRL3): c.1486G> A (p.Ala496Thr) single nucleotide variant Benign/Likely benign rs58036849 GRCh38 Chromosome 16, 88756: 88756
13 NPRL3 NM_001077350.2(NPRL3): c.534C> T (p.Ser178=) single nucleotide variant Benign rs140092767 GRCh38 Chromosome 16, 112635: 112635
14 NPRL3 NM_001077350.2(NPRL3): c.534C> T (p.Ser178=) single nucleotide variant Benign rs140092767 GRCh37 Chromosome 16, 162634: 162634
15 NPRL3 NM_001077350.2(NPRL3): c.180C> T (p.Gly60=) single nucleotide variant Benign rs75187722 GRCh37 Chromosome 16, 180529: 180529
16 NPRL3 NM_001077350.2(NPRL3): c.180C> T (p.Gly60=) single nucleotide variant Benign rs75187722 GRCh38 Chromosome 16, 130530: 130530
17 NPRL3 NM_001077350.2(NPRL3): c.696C> T (p.Pro232=) single nucleotide variant Likely benign rs368272925 GRCh37 Chromosome 16, 150441: 150441
18 NPRL3 NM_001077350.2(NPRL3): c.696C> T (p.Pro232=) single nucleotide variant Likely benign rs368272925 GRCh38 Chromosome 16, 100443: 100443
19 NPRL3 NM_001077350.2(NPRL3): c.447C> T (p.Ile149=) single nucleotide variant Benign rs367592989 GRCh37 Chromosome 16, 162721: 162721
20 NPRL3 NM_001077350.2(NPRL3): c.447C> T (p.Ile149=) single nucleotide variant Benign rs367592989 GRCh38 Chromosome 16, 112722: 112722
21 NPRL3 NM_001077350.2(NPRL3): c.629+9G> C single nucleotide variant Benign rs142080016 GRCh38 Chromosome 16, 110516: 110516
22 NPRL3 NM_001077350.2(NPRL3): c.629+9G> C single nucleotide variant Benign rs142080016 GRCh37 Chromosome 16, 160514: 160514
23 NPRL3 NM_001077350.2(NPRL3): c.550A> C (p.Asn184His) single nucleotide variant Benign rs73478320 GRCh37 Chromosome 16, 160602: 160602
24 NPRL3 NM_001077350.2(NPRL3): c.550A> C (p.Asn184His) single nucleotide variant Benign rs73478320 GRCh38 Chromosome 16, 110604: 110604
25 NPRL3 NC_000016.10: g.(?_130502)_(130611_?)del deletion Pathogenic GRCh37 Chromosome 16, 180501: 180610
26 NPRL3 NC_000016.10: g.(?_130502)_(130611_?)del deletion Pathogenic GRCh38 Chromosome 16, 130502: 130611
27 NPRL3 NM_001077350.2(NPRL3): c.714G> A (p.Ala238=) single nucleotide variant Likely benign rs751260495 GRCh37 Chromosome 16, 150423: 150423
28 NPRL3 NM_001077350.2(NPRL3): c.714G> A (p.Ala238=) single nucleotide variant Likely benign rs751260495 GRCh38 Chromosome 16, 100425: 100425
29 NPRL3 NM_001077350.2(NPRL3): c.641C> T (p.Ser214Leu) single nucleotide variant Uncertain significance rs556232826 GRCh37 Chromosome 16, 150496: 150496
30 NPRL3 NM_001077350.2(NPRL3): c.641C> T (p.Ser214Leu) single nucleotide variant Uncertain significance rs556232826 GRCh38 Chromosome 16, 100498: 100498
31 NPRL3 NM_001077350.2(NPRL3): c.1278C> G (p.Asp426Glu) single nucleotide variant Benign rs74712570 GRCh38 Chromosome 16, 89786: 89786
32 NPRL3 NM_001077350.2(NPRL3): c.1278C> G (p.Asp426Glu) single nucleotide variant Benign rs74712570 GRCh37 Chromosome 16, 139784: 139784
33 NPRL3 NM_001077350.2(NPRL3): c.1252G> A (p.Glu418Lys) single nucleotide variant Uncertain significance rs547498080 GRCh38 Chromosome 16, 89812: 89812
34 NPRL3 NM_001077350.2(NPRL3): c.1252G> A (p.Glu418Lys) single nucleotide variant Uncertain significance rs547498080 GRCh37 Chromosome 16, 139810: 139810
35 NPRL3 NM_001077350.2(NPRL3): c.1073C> T (p.Ser358Phe) single nucleotide variant Uncertain significance rs1039004556 GRCh37 Chromosome 16, 142682: 142682
36 NPRL3 NM_001077350.2(NPRL3): c.1073C> T (p.Ser358Phe) single nucleotide variant Uncertain significance rs1039004556 GRCh38 Chromosome 16, 92684: 92684
37 NPRL3 NM_001077350.2(NPRL3): c.1589T> C (p.Met530Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 136825: 136825
38 NPRL3 NM_001077350.2(NPRL3): c.1589T> C (p.Met530Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 86826: 86826
39 NPRL3 NM_001077350.2(NPRL3): c.1317C> T (p.Leu439=) single nucleotide variant Likely benign GRCh38 Chromosome 16, 89747: 89747
40 NPRL3 NM_001077350.2(NPRL3): c.1317C> T (p.Leu439=) single nucleotide variant Likely benign GRCh37 Chromosome 16, 139745: 139745
41 NPRL3 NM_001077350.2(NPRL3): c.1243T> C (p.Ser415Pro) single nucleotide variant Uncertain significance rs546525405 GRCh38 Chromosome 16, 89821: 89821
42 NPRL3 NM_001077350.2(NPRL3): c.1243T> C (p.Ser415Pro) single nucleotide variant Uncertain significance rs546525405 GRCh37 Chromosome 16, 139819: 139819
43 NPRL3 NM_001077350.2(NPRL3): c.1215G> C (p.Gln405His) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 139847: 139847
44 NPRL3 NM_001077350.2(NPRL3): c.1215G> C (p.Gln405His) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 89849: 89849
45 NPRL3 NM_001077350.2(NPRL3): c.1107C> T (p.Ser369=) single nucleotide variant Likely benign rs572375358 GRCh37 Chromosome 16, 142648: 142648
46 NPRL3 NM_001077350.2(NPRL3): c.1107C> T (p.Ser369=) single nucleotide variant Likely benign rs572375358 GRCh38 Chromosome 16, 92650: 92650
47 NPRL3 NM_001077350.2(NPRL3): c.1041G> A (p.Pro347=) single nucleotide variant Benign rs1128426 GRCh37 Chromosome 16, 142714: 142714
48 NPRL3 NM_001077350.2(NPRL3): c.1041G> A (p.Pro347=) single nucleotide variant Benign rs1128426 GRCh38 Chromosome 16, 92716: 92716
49 NPRL3 NM_001077350.2(NPRL3): c.997G> A (p.Val333Ile) single nucleotide variant Uncertain significance rs367664536 GRCh38 Chromosome 16, 93253: 93253
50 NPRL3 NM_001077350.2(NPRL3): c.997G> A (p.Val333Ile) single nucleotide variant Uncertain significance rs367664536 GRCh37 Chromosome 16, 143251: 143251

Expression for Epilepsy, Familial Focal, with Variable Foci 3

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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

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