FEB
MCID: FML350
MIFTS: 31

Familial Febrile Seizures (FEB)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Familial Febrile Seizures

MalaCards integrated aliases for Familial Febrile Seizures:

Name: Familial Febrile Seizures 12 6
Familial Febrile Convulsions 12
Feb 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111297

Summaries for Familial Febrile Seizures

Disease Ontology : 12 A brain disease characterized by seizures during childhood associated with febrile episodes without any evidence of intracranial infection or defined pathologic or traumatic cause with a familial pattern of inheritance.

MalaCards based summary : Familial Febrile Seizures, also known as familial febrile convulsions, is related to febrile seizures, familial, 1 and generalized epilepsy with febrile seizures plus, type 7. An important gene associated with Familial Febrile Seizures is FEB1 (Febrile Convulsions 1), and among its related pathways/superpathways is Interaction between L1 and Ankyrins. Affiliated tissues include brain, temporal lobe and liver.

Related Diseases for Familial Febrile Seizures

Diseases in the Febrile Seizures family:

Febrile Seizures, Familial, 1 Febrile Seizures, Familial, 2
Febrile Seizures, Familial, 4 Febrile Seizures, Familial, 8
Febrile Seizures, Familial, 6 Febrile Seizures, Familial, 5
Febrile Seizures, Familial, 7 Febrile Seizures, Familial, 9
Febrile Seizures, Familial, 10 Febrile Seizures, Familial, 11
Familial Febrile Seizures

Diseases related to Familial Febrile Seizures via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 102)
# Related Disease Score Top Affiliating Genes
1 febrile seizures, familial, 1 33.0 SCN9A SCN1A-AS1 FEB1 ADGRV1
2 generalized epilepsy with febrile seizures plus, type 7 32.4 SCN9A SCN1A-AS1
3 genetic epilepsy with febrile seizures plus 30.3 SCN9A SCN1A
4 myoclonic epilepsy of infancy 30.2 SCN1A GABRG2
5 febrile seizures 29.9 SCN9A SCN1A-AS1 SCN1A GABRG2 ADGRV1
6 epilepsy 29.4 SCN9A SCN1A-AS1 SCN1A GABRG2 ADGRV1
7 generalized epilepsy with febrile seizures plus 29.3 SCN9A SCN1A-AS1 SCN1A GABRG2 ADGRV1
8 febrile seizures, familial, 8 12.1
9 febrile seizures, familial, 10 12.1
10 febrile seizures, familial, 11 12.0
11 febrile seizures, familial, 2 11.9
12 febrile seizures, familial, 4 11.9
13 febrile seizures, familial, 6 11.9
14 febrile seizures, familial, 5 11.9
15 febrile seizures, familial, 7 11.9
16 febrile seizures, familial, 9 11.9
17 generalized epilepsy with febrile seizures plus, type 2 11.2
18 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.4
19 indifference to pain, congenital, autosomal recessive 10.3 SCN9A SCN1A-AS1
20 paroxysmal extreme pain disorder 10.3 SCN9A SCN1A-AS1
21 scn1a seizure disorders 10.3 SCN9A SCN1A
22 electroclinical syndrome 10.3 SCN1A GABRG2
23 progressive familial heart block, type ia 10.3 SCN9A SCN1A
24 reflex epilepsy 10.3 SCN1A GABRG2
25 early onset absence epilepsy 10.2 SCN1A GABRG2
26 landau-kleffner syndrome 10.2 SCN1A GABRG2
27 visual epilepsy 10.2
28 seizure disorder 10.2
29 epilepsy, nocturnal frontal lobe, 1 10.2 SCN1A GABRG2
30 epilepsy with generalized tonic-clonic seizures 10.2 SCN1A GABRG2
31 juvenile absence epilepsy 10.2 SCN1A GABRG2
32 adolescence-adult electroclinical syndrome 10.2 SCN1A GABRG2
33 photosensitive epilepsy 10.1 SCN1A GABRG2
34 erythromelalgia 10.1 SCN9A SCN1A-AS1 SCN1A
35 childhood electroclinical syndrome 10.1 SCN1A GABRG2
36 neonatal period electroclinical syndrome 10.1 SCN9A SCN1A GABRG2
37 huntington disease 10.1
38 tendinosis 10.1
39 disease of mental health 10.1
40 lennox-gastaut syndrome 10.1 SCN9A SCN1A GABRG2
41 paine syndrome 10.1 SCN9A SCN1A
42 polymerase proofreading-related adenomatous polyposis 10.1
43 epileptic encephalopathy, early infantile, 6 10.1 SCN9A SCN1A GABRG2
44 autosomal dominant nocturnal frontal lobe epilepsy 10.0 SCN1A KCNMB3 GABRG2
45 benign neonatal seizures 10.0 SCN1A GABRG2
46 benign epilepsy with centrotemporal spikes 10.0 SCN9A SCN1A GABRG2
47 somatoform disorder 10.0 SCN9A SCN1A
48 atherosclerosis susceptibility 9.9
49 cardiac conduction defect 9.9
50 nail-patella syndrome 9.9

Graphical network of the top 20 diseases related to Familial Febrile Seizures:



Diseases related to Familial Febrile Seizures

Symptoms & Phenotypes for Familial Febrile Seizures

Drugs & Therapeutics for Familial Febrile Seizures

Search Clinical Trials , NIH Clinical Center for Familial Febrile Seizures

Genetic Tests for Familial Febrile Seizures

Anatomical Context for Familial Febrile Seizures

MalaCards organs/tissues related to Familial Febrile Seizures:

40
Brain, Temporal Lobe, Liver, Heart, Kidney, Testes

Publications for Familial Febrile Seizures

Articles related to Familial Febrile Seizures:

(show all 22)
# Title Authors PMID Year
1
Novel GABRG2 mutations cause familial febrile seizures. 61
27066572 2015
2
Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia. 61
26528127 2015
3
Duplications of 17q12 can cause familial fever-related epilepsy syndromes. 61
24049133 2013
4
NaV1.1 channels and epilepsy. 61
20194124 2010
5
Sudden death, febrile seizures, and hippocampal and temporal lobe maldevelopment in toddlers: a new entity. 61
19606910 2009
6
A case report of a family with overlapping features of autosomal dominant febrile seizures and GEFS+. 61
19054398 2009
7
A novel genetic locus for familial febrile seizures and epilepsy on chromosome 3q26.2-q26.33. 61
18830713 2008
8
[Association between familial febrile convulsions and HCN2 gene]. 61
15932727 2005
9
Febrile seizures. From molecular biology to clinical practice. 61
22473178 2005
10
[Five single nucleotide polymorphisms of casein kinase I gamma 2 gene in children with familial febrile convulsions]. 61
15300631 2004
11
Phenotypic features of familial febrile seizures: case-control study. 61
12578920 2003
12
A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures. 61
12402266 2002
13
Lack of SCN1A mutations in familial febrile seizures. 61
12027919 2002
14
Characterization and in silico mapping of a novel murine zinc finger transcription factor. 61
12036583 2002
15
Hippocampal malformation as a cause of familial febrile convulsions and subsequent hippocampal sclerosis. 1998. 61
11775604 2001
16
[Familial febrile convulsions is supposed to link to human chromosome 19p13.3]. 61
11798847 2001
17
[The genotype-based haplotype relative risk and transmission disequilibrium test analyses of familial febrile convulsions]. 61
10514535 1999
18
Hippocampal malformation as a cause of familial febrile convulsions and subsequent hippocampal sclerosis. 61
10331715 1999
19
Characteristics of the initial seizure in familial febrile seizures. 61
10325737 1999
20
Hippocampal malformation as a cause of familial febrile convulsions and subsequent hippocampal sclerosis. 61
9566371 1998
21
Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest. 61
9384604 1998
22
Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21. 61
8730286 1996

Variations for Familial Febrile Seizures

ClinVar genetic disease variations for Familial Febrile Seizures:

6 (show top 50) (show all 156) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN9A NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val)SNV Conflicting interpretations of pathogenicity 157597 rs182650126 2:167136962-167136962 2:166280452-166280452
2 SCN9A NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys)SNV Conflicting interpretations of pathogenicity 193859 rs187453572 2:167142893-167142893 2:166286383-166286383
3 SCN9A NM_001365536.1(SCN9A):c.3684T>C (p.Tyr1228=)SNV Conflicting interpretations of pathogenicity 195488 rs144941725 2:167094721-167094721 2:166238211-166238211
4 SCN9A NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val)SNV Conflicting interpretations of pathogenicity 195592 rs180922748 2:167089942-167089942 2:166233432-166233432
5 SCN9A NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=)SNV Conflicting interpretations of pathogenicity 195816 rs188336294 2:167083161-167083161 2:166226651-166226651
6 SCN9A NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys)SNV Conflicting interpretations of pathogenicity 30357 rs200945460 2:167137018-167137018 2:166280508-166280508
7 SCN9A NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu)SNV Conflicting interpretations of pathogenicity 94090 rs4369876 2:167129256-167129256 2:166272746-166272746
8 SCN9A NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys)SNV Conflicting interpretations of pathogenicity 130260 rs199692186 2:167129258-167129258 2:166272748-166272748
9 SCN9A NM_001365536.1(SCN9A):c.5711G>A (p.Arg1904His)SNV Conflicting interpretations of pathogenicity 234820 rs79805025 2:167055438-167055438 2:166198928-166198928
10 SCN9A NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser)SNV Conflicting interpretations of pathogenicity 130265 rs141268327 2:167094638-167094638 2:166238128-166238128
11 SCN9A NM_001365536.1(SCN9A):c.2461G>A (p.Val821Met)SNV Conflicting interpretations of pathogenicity 254095 rs41268671 2:167134706-167134706 2:166278196-166278196
12 SCN9A NM_001365536.1(SCN9A):c.1464C>T (p.Leu488=)SNV Conflicting interpretations of pathogenicity 291185 rs200682458 2:167142984-167142984 2:166286474-166286474
13 SCN9A NM_001365536.1(SCN9A):c.4495C>A (p.Arg1499=)SNV Conflicting interpretations of pathogenicity 331963 rs187558439 2:167060878-167060878 2:166204368-166204368
14 SCN9A NM_001365536.1(SCN9A):c.213G>A (p.Val71=)SNV Conflicting interpretations of pathogenicity 332000 rs200240989 2:167168054-167168054 2:166311544-166311544
15 SCN9A NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=)SNV Conflicting interpretations of pathogenicity 331984 rs200014315 2:167138313-167138313 2:166281803-166281803
16 SCN9A NM_001365536.1(SCN9A):c.1713C>T (p.Ala571=)SNV Conflicting interpretations of pathogenicity 331987 rs200876333 2:167141224-167141224 2:166284714-166284714
17 SCN9A NM_001365536.1(SCN9A):c.1619G>A (p.Arg540His)SNV Conflicting interpretations of pathogenicity 331988 rs199748300 2:167141318-167141318 2:166284808-166284808
18 SCN9A NM_001365536.1(SCN9A):c.1208T>C (p.Met403Thr)SNV Conflicting interpretations of pathogenicity 331992 rs199986805 2:167145053-167145053 2:166288543-166288543
19 SCN9A NM_001365536.1(SCN9A):c.2496A>C (p.Ser832=)SNV Conflicting interpretations of pathogenicity 331981 rs200185692 2:167134671-167134671 2:166278161-166278161
20 SCN9A NM_001365536.1(SCN9A):c.4503+8_4503+9insTinsertion Conflicting interpretations of pathogenicity 331962 rs767624579 2:167060861-167060862 2:166204351-166204352
21 SCN9A NM_001365536.1(SCN9A):c.3020G>A (p.Arg1007His)SNV Conflicting interpretations of pathogenicity 331974 rs188145203 2:167129240-167129240 2:166272730-166272730
22 SCN9A NM_001365536.1(SCN9A):c.1482G>T (p.Lys494Asn)SNV Conflicting interpretations of pathogenicity 331990 rs777699798 2:167142966-167142966 2:166286456-166286456
23 SCN9A NM_001365536.1(SCN9A):c.1347T>C (p.Ser449=)SNV Conflicting interpretations of pathogenicity 331991 rs201990547 2:167143101-167143101 2:166286591-166286591
24 SCN9A NM_001365536.1(SCN9A):c.1207A>C (p.Met403Leu)SNV Uncertain significance 331993 rs746956041 2:167145054-167145054 2:166288544-166288544
25 SCN9A NM_001365536.1(SCN9A):c.685C>A (p.Pro229Thr)SNV Uncertain significance 331998 rs755653914 2:167160751-167160751 2:166304241-166304241
26 SCN9A NM_001365536.1(SCN9A):c.274A>T (p.Asn92Tyr)SNV Uncertain significance 331999 rs747265095 2:167163569-167163569 2:166307059-166307059
27 SCN9A NM_001365536.1(SCN9A):c.4434_4436GAA[1] (p.Lys1480del)short repeat Uncertain significance 331964 rs886055050 2:167060934-167060936 2:166204424-166204426
28 SCN9A NM_001365536.1(SCN9A):c.5379G>A (p.Ala1793=)SNV Uncertain significance 331961 rs201875421 2:167055770-167055770 2:166199260-166199260
29 SCN9A NM_001365536.1(SCN9A):c.1094A>G (p.Asn365Ser)SNV Uncertain significance 331995 rs886055055 2:167149754-167149754 2:166293244-166293244
30 SCN9A NM_001365536.1(SCN9A):c.3944T>C (p.Ile1315Thr)SNV Uncertain significance 331965 rs202235611 2:167085463-167085463 2:166228953-166228953
31 SCN9A NM_001365536.1(SCN9A):c.3754A>G (p.Thr1252Ala)SNV Uncertain significance 331968 rs886055052 2:167094651-167094651 2:166238141-166238141
32 SCN9A NM_001365536.1(SCN9A):c.*2860C>TSNV Uncertain significance 331902 rs200963393 2:167052322-167052322 2:166195812-166195812
33 SCN9A NM_002977.3(SCN9A):c.-324C>TSNV Uncertain significance 332008 rs201905758 2:167232480-167232480 2:166375970-166375970
34 SCN9A NM_002977.3(SCN9A):c.-339G>CSNV Uncertain significance 332009 rs886055057 2:167232495-167232495 2:166375985-166375985
35 SCN9A NM_001365536.1(SCN9A):c.*1605T>CSNV Uncertain significance 331931 rs199848927 2:167053577-167053577 2:166197067-166197067
36 SCN9A NM_001365536.1(SCN9A):c.-126G>CSNV Uncertain significance 332002 rs200099565 2:167232282-167232282 2:166375772-166375772
37 SCN9A NM_001365536.1(SCN9A):c.*2744deldeletion Uncertain significance 331904 rs763459885 2:167052438-167052438 2:166195928-166195928
38 SCN9A NM_001365536.1(SCN9A):c.*2222T>CSNV Uncertain significance 331916 rs199958892 2:167052960-167052960 2:166196450-166196450
39 SCN9A NM_001365536.1(SCN9A):c.*1770A>CSNV Uncertain significance 331927 rs200353065 2:167053412-167053412 2:166196902-166196902
40 SCN9A NM_001365536.1(SCN9A):c.*226A>CSNV Uncertain significance 331953 rs886055048 2:167054956-167054956 2:166198446-166198446
41 SCN9A NM_001365536.1(SCN9A):c.*1357C>TSNV Uncertain significance 331934 rs200338267 2:167053825-167053825 2:166197315-166197315
42 SCN9A NM_001365536.1(SCN9A):c.*491deldeletion Uncertain significance 331947 rs886055047 2:167054691-167054691 2:166198181-166198181
43 SCN9A NM_001365536.1(SCN9A):c.*165_*167dupduplication Uncertain significance 331956 rs886055049 2:167055014-167055015 2:166198504-166198505
44 SCN9A NM_001365536.1(SCN9A):c.3925-13T>CSNV Uncertain significance 331966 rs886055051 2:167085495-167085495 2:166228985-166228985
45 SCN9A NM_001365536.1(SCN9A):c.3265G>A (p.Val1089Met)SNV Uncertain significance 331973 rs886055053 2:167128995-167128995 2:166272485-166272485
46 SCN9A NM_001365536.1(SCN9A):c.2916T>C (p.Ser972=)SNV Uncertain significance 331975 rs886055054 2:167129344-167129344 2:166272834-166272834
47 SCN9A NM_001365536.1(SCN9A):c.1014T>G (p.Asp338Glu)SNV Uncertain significance 331996 rs886055056 2:167149834-167149834 2:166293324-166293324
48 SCN9A NM_001365536.1(SCN9A):c.*2986T>GSNV Uncertain significance 331900 rs201730339 2:167052196-167052196 2:166195686-166195686
49 SCN9A NM_001365536.1(SCN9A):c.3497G>A (p.Cys1166Tyr)SNV Uncertain significance 331969 rs370455223 2:167099142-167099142 2:166242632-166242632
50 SCN9A NM_001365536.1(SCN9A):c.*948G>ASNV Uncertain significance 331940 rs201415802 2:167054234-167054234 2:166197724-166197724

Expression for Familial Febrile Seizures

Search GEO for disease gene expression data for Familial Febrile Seizures.

Pathways for Familial Febrile Seizures

Pathways related to Familial Febrile Seizures according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.1 SCN9A SCN1A

GO Terms for Familial Febrile Seizures

Cellular components related to Familial Febrile Seizures according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated sodium channel complex GO:0001518 8.62 SCN9A SCN1A

Biological processes related to Familial Febrile Seizures according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.5 SCN9A SCN1A GABRG2
2 ion transport GO:0006811 9.46 SCN9A SCN1A KCNMB3 GABRG2
3 nervous system process GO:0050877 9.26 GABRG2 ADGRV1
4 membrane depolarization during action potential GO:0086010 8.96 SCN9A SCN1A
5 neuronal action potential GO:0019228 8.8 SCN9A SCN1A KCNMB3

Molecular functions related to Familial Febrile Seizures according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sodium channel activity GO:0005272 9.16 SCN9A SCN1A
2 voltage-gated sodium channel activity GO:0005248 8.96 SCN9A SCN1A
3 ion channel activity GO:0005216 8.8 SCN9A SCN1A GABRG2

Sources for Familial Febrile Seizures

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11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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63 QIAGEN
68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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