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 febrile seizures, familial, 11. 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, testes and temporal lobe.

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 91)
# Related Disease Score Top Affiliating Genes
1 febrile seizures, familial, 1 33.8 FEB1 ADGRV1
2 febrile seizures, familial, 11 33.6 LOC102724708 CPA6
3 generalized epilepsy with febrile seizures plus, type 7 32.6 SCN9A SCN1A-AS1
4 genetic epilepsy with febrile seizures plus 30.8 SCN9A SCN1A
5 myoclonic epilepsy of infancy 30.5 SCN1A GABRG2
6 early myoclonic encephalopathy 30.1 SCN1A GABRG2
7 febrile seizures 30.0 SCN9A SCN1A GABRG2 CPA6 ADGRV1
8 epilepsy 29.8 SCN9A SCN1A GABRG2 CPA6
9 generalized epilepsy with febrile seizures plus 29.7 SCN9A SCN1A-AS1 SCN1A GABRG2 ADGRV1
10 febrile seizures, familial, 8 12.1
11 febrile seizures, familial, 10 12.1
12 febrile seizures, familial, 2 11.9
13 febrile seizures, familial, 4 11.9
14 febrile seizures, familial, 6 11.9
15 febrile seizures, familial, 5 11.9
16 febrile seizures, familial, 7 11.9
17 febrile seizures, familial, 9 11.9
18 generalized epilepsy with febrile seizures plus, type 2 11.2
19 temporal epilepsy, familial 10.5 LOC102724708 CPA6
20 indifference to pain, congenital, autosomal recessive 10.5 SCN9A SCN1A-AS1
21 paroxysmal extreme pain disorder 10.4 SCN9A SCN1A-AS1
22 epilepsy, familial temporal lobe, 5 10.4 LOC102724708 CPA6
23 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.4
24 seizures, benign familial infantile, 3 10.3 SCN1A GABRG2
25 visual epilepsy 10.3
26 seizure disorder 10.3
27 adolescence-adult electroclinical syndrome 10.2 SCN1A GABRG2
28 epileptic encephalopathy, early infantile, 6 10.2 SCN9A SCN1A GABRG2
29 infancy electroclinical syndrome 10.2 SCN1A GABRG2
30 epilepsy, idiopathic generalized 10 10.1 SCN1A GABRG2 CPA6
31 huntington disease 10.1
32 enhanced s-cone syndrome 10.1
33 tendinosis 10.1
34 disease of mental health 10.1
35 focal epilepsy 10.1 SCN1A GABRG2 CPA6
36 polymerase proofreading-related adenomatous polyposis 10.1
37 epilepsy, nocturnal frontal lobe, 1 10.1 SCN1A GABRG2
38 atherosclerosis susceptibility 9.9
39 cardiac conduction defect 9.9
40 nail-patella syndrome 9.9
41 neurofibromatosis, type iv, of riccardi 9.9
42 ovarian cancer 9.9
43 pulmonary hypertension, primary, 1 9.9
44 triiodothyronine receptor auxiliary protein 9.9
45 lymphoma, hodgkin, classic 9.9
46 maple syrup urine disease 9.9
47 fabry disease 9.9
48 patent ductus arteriosus 1 9.9
49 human immunodeficiency virus type 1 9.9
50 gastric cancer 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:

41
Brain, Testes, Temporal Lobe

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. 38
27066572 2015
2
Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia. 38
26528127 2015
3
Duplications of 17q12 can cause familial fever-related epilepsy syndromes. 38
24049133 2013
4
NaV1.1 channels and epilepsy. 38
20194124 2010
5
Sudden death, febrile seizures, and hippocampal and temporal lobe maldevelopment in toddlers: a new entity. 38
19606910 2009
6
A case report of a family with overlapping features of autosomal dominant febrile seizures and GEFS+. 38
19054398 2009
7
A novel genetic locus for familial febrile seizures and epilepsy on chromosome 3q26.2-q26.33. 38
18830713 2008
8
[Association between familial febrile convulsions and HCN2 gene]. 38
15932727 2005
9
Febrile seizures. From molecular biology to clinical practice. 38
22473178 2005
10
[Five single nucleotide polymorphisms of casein kinase I gamma 2 gene in children with familial febrile convulsions]. 38
15300631 2004
11
Phenotypic features of familial febrile seizures: case-control study. 38
12578920 2003
12
A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures. 38
12402266 2002
13
Lack of SCN1A mutations in familial febrile seizures. 38
12027919 2002
14
Characterization and in silico mapping of a novel murine zinc finger transcription factor. 38
12036583 2002
15
Hippocampal malformation as a cause of familial febrile convulsions and subsequent hippocampal sclerosis. 1998. 38
11775604 2001
16
[Familial febrile convulsions is supposed to link to human chromosome 19p13.3]. 38
11798847 2001
17
[The genotype-based haplotype relative risk and transmission disequilibrium test analyses of familial febrile convulsions]. 38
10514535 1999
18
Hippocampal malformation as a cause of familial febrile convulsions and subsequent hippocampal sclerosis. 38
10331715 1999
19
Characteristics of the initial seizure in familial febrile seizures. 38
10325737 1999
20
Hippocampal malformation as a cause of familial febrile convulsions and subsequent hippocampal sclerosis. 38
9566371 1998
21
Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest. 38
9384604 1998
22
Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21. 38
8730286 1996

Variations for Familial Febrile Seizures

ClinVar genetic disease variations for Familial Febrile Seizures:

6 (show top 50) (show all 156)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SCN9A NM_002977.3(SCN9A): c.2159T> A (p.Ile720Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200945460 2:167137018-167137018 2:166280508-166280508
2 SCN9A NM_002977.3(SCN9A): c.2971G> T (p.Val991Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs4369876 2:167129256-167129256 2:166272746-166272746
3 SCN9A NM_002977.3(SCN9A): c.2969A> G (p.Tyr990Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199692186 2:167129258-167129258 2:166272748-166272748
4 SCN9A NM_002977.3(SCN9A): c.3734A> G (p.Asn1245Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141268327 2:167094638-167094638 2:166238128-166238128
5 SCN9A NM_002977.3(SCN9A): c.2215A> G (p.Ile739Val) single nucleotide variant Conflicting interpretations of pathogenicity rs182650126 2:167136962-167136962 2:166280452-166280452
6 SCN9A NM_002977.3(SCN9A): c.1555G> A (p.Glu519Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs187453572 2:167142893-167142893 2:166286383-166286383
7 SCN9A NM_002977.3(SCN9A): c.3651T> C (p.Tyr1217=) single nucleotide variant Conflicting interpretations of pathogenicity rs144941725 2:167094721-167094721 2:166238211-166238211
8 SCN9A NM_002977.3(SCN9A): c.3799C> G (p.Leu1267Val) single nucleotide variant Conflicting interpretations of pathogenicity rs180922748 2:167089942-167089942 2:166233432-166233432
9 SCN9A NM_002977.3(SCN9A): c.4281C> T (p.Val1427=) single nucleotide variant Conflicting interpretations of pathogenicity rs188336294 2:167083161-167083161 2:166226651-166226651
10 SCN9A NM_002977.3(SCN9A): c.5678G> A (p.Arg1893His) single nucleotide variant Conflicting interpretations of pathogenicity rs79805025 2:167055438-167055438 2:166198928-166198928
11 SCN9A NM_002977.3(SCN9A): c.2428G> A (p.Val810Met) single nucleotide variant Conflicting interpretations of pathogenicity rs41268671 2:167134706-167134706 2:166278196-166278196
12 SCN9A NM_002977.3(SCN9A): c.1464C> T (p.Leu488=) single nucleotide variant Conflicting interpretations of pathogenicity rs200682458 2:167142984-167142984 2:166286474-166286474
13 SCN9A NM_002977.3(SCN9A): c.4462C> A (p.Arg1488=) single nucleotide variant Conflicting interpretations of pathogenicity rs187558439 2:167060878-167060878 2:166204368-166204368
14 SCN9A NM_002977.3(SCN9A): c.1947G> A (p.Thr649=) single nucleotide variant Conflicting interpretations of pathogenicity rs200014315 2:167138313-167138313 2:166281803-166281803
15 SCN9A NM_002977.3(SCN9A): c.213G> A (p.Val71=) single nucleotide variant Conflicting interpretations of pathogenicity rs200240989 2:167168054-167168054 2:166311544-166311544
16 SCN9A NM_002977.3(SCN9A): c.1619G> A (p.Arg540His) single nucleotide variant Conflicting interpretations of pathogenicity rs199748300 2:167141318-167141318 2:166284808-166284808
17 SCN9A NM_002977.3(SCN9A): c.1208T> C (p.Met403Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs199986805 2:167145053-167145053 2:166288543-166288543
18 SCN9A NM_002977.3(SCN9A): c.4470+8_4470+9insT insertion Conflicting interpretations of pathogenicity rs767624579 2:167060861-167060862 2:166204351-166204352
19 SCN9A NM_002977.3(SCN9A): c.2987G> A (p.Arg996His) single nucleotide variant Conflicting interpretations of pathogenicity rs188145203 2:167129240-167129240 2:166272730-166272730
20 SCN9A NM_002977.3(SCN9A): c.1482G> T (p.Lys494Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs777699798 2:167142966-167142966 2:166286456-166286456
21 SCN9A NM_002977.3(SCN9A): c.1347T> C (p.Ser449=) single nucleotide variant Conflicting interpretations of pathogenicity rs201990547 2:167143101-167143101 2:166286591-166286591
22 SCN9A NM_002977.3(SCN9A): c.1207A> C (p.Met403Leu) single nucleotide variant Uncertain significance rs746956041 2:167145054-167145054 2:166288544-166288544
23 SCN9A NM_002977.3(SCN9A): c.4401_4403GAA[1] (p.Lys1469del) short repeat Uncertain significance rs886055050 2:167060934-167060936 2:166204424-166204426
24 SCN9A NM_002977.3(SCN9A): c.5346G> A (p.Ala1782=) single nucleotide variant Uncertain significance rs201875421 2:167055770-167055770 2:166199260-166199260
25 SCN9A NM_002977.3(SCN9A): c.*226A> C single nucleotide variant Uncertain significance rs886055048 2:167054956-167054956 2:166198446-166198446
26 SCN9A NM_002977.3(SCN9A): c.*2860C> T single nucleotide variant Uncertain significance rs200963393 2:167052322-167052322 2:166195812-166195812
27 SCN9A NM_002977.3(SCN9A): c.-324C> T single nucleotide variant Uncertain significance rs201905758 2:167232480-167232480 2:166375970-166375970
28 SCN9A NM_002977.3(SCN9A): c.-339G> C single nucleotide variant Uncertain significance rs886055057 2:167232495-167232495 2:166375985-166375985
29 SCN9A NM_002977.3(SCN9A): c.*1605T> C single nucleotide variant Uncertain significance rs199848927 2:167053577-167053577 2:166197067-166197067
30 SCN9A NM_002977.3(SCN9A): c.-126G> C single nucleotide variant Uncertain significance rs200099565 2:167232282-167232282 2:166375772-166375772
31 SCN9A NM_002977.3(SCN9A): c.*2744del deletion Uncertain significance rs763459885 2:167052438-167052438 2:166195928-166195928
32 SCN9A NM_002977.3(SCN9A): c.3232G> A (p.Val1078Met) single nucleotide variant Uncertain significance rs886055053 2:167128995-167128995 2:166272485-166272485
33 SCN9A NM_002977.3(SCN9A): c.2883T> C (p.Ser961=) single nucleotide variant Uncertain significance rs886055054 2:167129344-167129344 2:166272834-166272834
34 SCN9A NM_002977.3(SCN9A): c.*1357C> T single nucleotide variant Uncertain significance rs200338267 2:167053825-167053825 2:166197315-166197315
35 SCN9A NM_002977.3(SCN9A): c.*491del deletion Uncertain significance rs886055047 2:167054691-167054691 2:166198181-166198181
36 SCN9A NM_002977.3(SCN9A): c.*165_*167dup duplication Uncertain significance rs886055049 2:167055015-167055017 2:166198505-166198507
37 SCN9A NM_002977.3(SCN9A): c.3892-13T> C single nucleotide variant Uncertain significance rs886055051 2:167085495-167085495 2:166228985-166228985
38 SCN9A NM_002977.3(SCN9A): c.1713C> T (p.Ala571=) single nucleotide variant Uncertain significance rs200876333 2:167141224-167141224 2:166284714-166284714
39 SCN9A NM_002977.3(SCN9A): c.*2222T> C single nucleotide variant Uncertain significance rs199958892 2:167052960-167052960 2:166196450-166196450
40 SCN9A NM_002977.3(SCN9A): c.*1770A> C single nucleotide variant Uncertain significance rs200353065 2:167053412-167053412 2:166196902-166196902
41 SCN9A NM_002977.3(SCN9A): c.3911T> C (p.Ile1304Thr) single nucleotide variant Uncertain significance rs202235611 2:167085463-167085463 2:166228953-166228953
42 SCN9A NM_002977.3(SCN9A): c.3721A> G (p.Thr1241Ala) single nucleotide variant Uncertain significance rs886055052 2:167094651-167094651 2:166238141-166238141
43 SCN9A NM_002977.3(SCN9A): c.2463A> C (p.Ser821=) single nucleotide variant Uncertain significance rs200185692 2:167134671-167134671 2:166278161-166278161
44 SCN9A NM_002977.3(SCN9A): c.1094A> G (p.Asn365Ser) single nucleotide variant Uncertain significance rs886055055 2:167149754-167149754 2:166293244-166293244
45 SCN9A NM_002977.3(SCN9A): c.*2986T> G single nucleotide variant Uncertain significance rs201730339 2:167052196-167052196 2:166195686-166195686
46 SCN9A NM_002977.3(SCN9A): c.1014T> G (p.Asp338Glu) single nucleotide variant Uncertain significance rs886055056 2:167149834-167149834 2:166293324-166293324
47 SCN9A NM_002977.3(SCN9A): c.3464G> A (p.Cys1155Tyr) single nucleotide variant Uncertain significance rs370455223 2:167099142-167099142 2:166242632-166242632
48 SCN9A NM_002977.3(SCN9A): c.*948G> A single nucleotide variant Uncertain significance rs201415802 2:167054234-167054234 2:166197724-166197724
49 SCN9A NM_002977.3(SCN9A): c.3431T> A (p.Phe1144Tyr) single nucleotide variant Uncertain significance rs750839038 2:167108283-167108283 2:166251773-166251773
50 SCN9A NM_002977.3(SCN9A): c.*2928G> A single nucleotide variant Uncertain significance rs199559478 2:167052254-167052254 2:166195744-166195744

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 transport GO:0006811 9.56 SCN9A SCN1A KCNMB3 GABRG2
2 ion transmembrane transport GO:0034220 9.5 SCN9A SCN1A GABRG2
3 nervous system process GO:0050877 9.16 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 ion channel activity GO:0005216 9.13 SCN9A SCN1A GABRG2
3 voltage-gated sodium channel activity GO:0005248 8.62 SCN9A SCN1A

Sources for Familial Febrile Seizures

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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