FEB
MCID: FML350
MIFTS: 32

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 15
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, 8 and febrile seizures, familial, 11. An important gene associated with Familial Febrile Seizures is FEB1 (Febrile Convulsions 1), and among its related pathways/superpathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Neuroscience. Affiliated tissues include 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 125)
# Related Disease Score Top Affiliating Genes
1 febrile seizures, familial, 8 33.2 SCN1B SCN1A GABRG2 GABRD ADGRV1
2 febrile seizures, familial, 11 33.2 SCN1A GABRG2 GABRD ADGRV1
3 febrile seizures, familial, 10 33.0 LINS1 KCNMB3 FEB10
4 febrile seizures, familial, 6 33.0 SCN1B SCN1A GABRG2 FEB6
5 febrile seizures, familial, 5 33.0 SCN2A SCN1B SCN1A GABRG2 FEB5
6 febrile seizures, familial, 4 32.9 SCN1B SCN1A LINS1 GABRG2 GABRD ADGRV1
7 febrile seizures, familial, 2 32.9 SCN2A SCN1B SCN1A LINS1 GABRG2 FEB2
8 febrile seizures, familial, 1 32.9 SCN9A SCN2A SCN1B SCN1A-AS1 SCN1A GABRG2
9 generalized epilepsy with febrile seizures plus, type 2 32.3 SCN9A SCN1B SCN1A GABRG2 GABRD
10 generalized epilepsy with febrile seizures plus, type 7 32.2 SCN9A SCN1B SCN1A-AS1 SCN1A GABRG2 GABRD
11 seizure disorder 31.0 SCN2A SCN1B SCN1A GABRG2
12 febrile seizures 31.0 SCN9A SCN2A SCN1B SCN1A-AS1 SCN1A GABRG2
13 genetic epilepsy with febrile seizures plus 30.6 SCN9A SCN2A SCN1A
14 myoclonic epilepsy of infancy 30.6 SCN1A GABRG2
15 early myoclonic encephalopathy 30.5 SCN9A SCN2A SCN1B SCN1A GABRG2 GABRD
16 dravet syndrome 30.5 SCN9A SCN2A SCN1B SCN1A-AS1 SCN1A GABRG2
17 generalized epilepsy with febrile seizures plus 30.4 SCN9A SCN2A SCN1B SCN1A-AS1 SCN1A GABRG2
18 epilepsy 30.4 SCN9A SCN2A SCN1B SCN1A-AS1 SCN1A GABRG2
19 febrile seizures, familial, 7 11.5
20 febrile seizures, familial, 9 11.5
21 generalized epilepsy with febrile seizures plus, type 1 10.5 SCN1B SCN1A GABRG2
22 epilepsy, nocturnal frontal lobe, 1 10.5 SCN1B SCN1A GABRG2
23 reflex epilepsy 10.5 SCN2A SCN1A GABRG2
24 developmental and epileptic encephalopathy 13 10.5 SCN2A SCN1B SCN1A
25 landau-kleffner syndrome 10.5 SCN2A SCN1A GABRG2
26 migraine, familial hemiplegic, 3 10.5 SCN9A SCN2A SCN1A
27 verbal auditory agnosia 10.5 SCN1B GABRG2
28 early onset absence epilepsy 10.5 SCN2A SCN1B SCN1A GABRG2
29 indifference to pain, congenital, autosomal recessive 10.5 SCN9A SCN1A-AS1
30 erythromelalgia 10.5 SCN9A SCN2A SCN1A-AS1 SCN1A
31 trigeminal nerve disease 10.5 SCN9A SCN2A SCN1A
32 unverricht-lundborg syndrome 10.4 SCN1B SCN1A GABRG2 ADGRV1
33 photosensitive epilepsy 10.4 SCN2A SCN1B SCN1A GABRG2
34 benign familial neonatal epilepsy 10.4 SCN2A SCN1B SCN1A GABRG2
35 paramyotonia congenita of von eulenburg 10.4 SCN9A SCN2A SCN1B SCN1A
36 hyperkalemic periodic paralysis 10.4 SCN9A SCN2A SCN1A
37 infancy electroclinical syndrome 10.4 SCN2A SCN1B SCN1A
38 epilepsy, familial temporal lobe, 1 10.4 SCN1B GABRG2 ADGRV1
39 paroxysmal extreme pain disorder 10.4 SCN9A SCN2A SCN1B SCN1A-AS1 SCN1A
40 progressive familial heart block, type ia 10.4 SCN9A SCN1A
41 benign familial infantile epilepsy 10.4 SCN9A SCN2A SCN1B SCN1A GABRG2
42 benign neonatal seizures 10.4 SCN2A SCN1B SCN1A
43 epilepsy with generalized tonic-clonic seizures 10.4 SCN2A SCN1B SCN1A GABRG2 GABRD
44 epilepsy, familial temporal lobe, 5 10.4 SCN9A SCN1B SCN1A GABRG2 GABRD ADGRV1
45 adolescence-adult electroclinical syndrome 10.4 SCN2A SCN1B SCN1A GABRG2 GABRD
46 childhood electroclinical syndrome 10.4 SCN2A SCN1B SCN1A GABRG2 GABRD
47 partial motor epilepsy 10.4 SCN2A SCN1A
48 sodium channelopathy-related small fiber neuropathy 10.4 SCN9A SCN1A-AS1
49 neonatal period electroclinical syndrome 10.4 SCN9A SCN2A SCN1B SCN1A GABRG2 GABRD
50 electroclinical syndrome 10.4 SCN9A SCN2A SCN1B SCN1A GABRG2 GABRD

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
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. 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 all 14)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN1A-AS1 NM_001365536.1(SCN9A):c.*2744del Deletion Uncertain significance 331904 rs763459885 2:167052438-167052438 2:166195928-166195928
2 SCN1A-AS1 NM_001365536.1(SCN9A):c.3464T>A (p.Phe1155Tyr) SNV Uncertain significance 289499 rs750839038 2:167108283-167108283 2:166251773-166251773
3 SCN1A-AS1 NM_001365536.1(SCN9A):c.4434_4436GAA[1] (p.Lys1480del) Microsatellite Uncertain significance 331964 rs886055050 2:167060934-167060936 2:166204424-166204426
4 SCN1A-AS1 NM_001365536.1(SCN9A):c.3497G>A (p.Cys1166Tyr) SNV Uncertain significance 331969 rs370455223 2:167099142-167099142 2:166242632-166242632
5 SCN1A-AS1 NM_001365536.1(SCN9A):c.*491del Deletion Uncertain significance 331947 rs886055047 2:167054691-167054691 2:166198181-166198181
6 SCN1A-AS1 NM_001365536.1(SCN9A):c.4503+8_4503+9insT Insertion Uncertain significance 331962 rs767624579 2:167060861-167060862 2:166204351-166204352
7 SCN1A-AS1 NM_001365536.1(SCN9A):c.*165_*167dup Duplication Uncertain significance 331956 rs886055049 2:167055014-167055015 2:166198504-166198505
8 SCN1A-AS1 NM_001365536.1(SCN9A):c.2875-5del Deletion Likely benign 331976 rs774840081 2:167129390-167129390 2:166272880-166272880
9 SCN1A-AS1 NM_001365536.1(SCN9A):c.1975-3del Deletion Likely benign 194207 rs35888674 2:167138321-167138321 2:166281811-166281811
10 SCN1A-AS1 NM_001365536.1(SCN9A):c.*1960_*1962dup Duplication Likely benign 331924 rs202073550 2:167053219-167053220 2:166196709-166196710
11 SCN1A-AS1 NM_001365536.1(SCN9A):c.*1605_*1606del Deletion Likely benign 331929 rs200091138 2:167053576-167053577 2:166197066-166197067
12 SCN1A-AS1 NM_001365536.1(SCN9A):c.1975-12dup Duplication Benign 167661 rs35888674 2:167138320-167138321 2:166281810-166281811
13 SCN1A-AS1 NM_001365536.1(SCN9A):c.*798dup Duplication Benign 331942 rs564394161 2:167054383-167054384 2:166197873-166197874
14 SCN1A-AS1 NM_001365536.1(SCN9A):c.*2616_*2626del Deletion Benign 331908 rs145255931 2:167052556-167052566 2:166196046-166196056

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
Show member pathways
12.26 SCN9A SCN2A SCN1B SCN1A
2 12.16 SCN9A SCN2A SCN1B SCN1A
3
Show member pathways
11.55 SCN9A SCN2A SCN1B SCN1A
4
Show member pathways
11.13 SCN9A SCN2A SCN1B SCN1A
5 10.49 GABRG2 GABRD
6 10.4 SCN9A SCN2A SCN1B 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 axon GO:0030424 9.73 SCN9A SCN2A SCN1B SCN1A GABRG2 GABRD
2 intercalated disc GO:0014704 9.54 SCN2A SCN1B SCN1A
3 T-tubule GO:0030315 9.5 SCN2A SCN1B SCN1A
4 GABA-A receptor complex GO:1902711 9.4 GABRG2 GABRD
5 node of Ranvier GO:0033268 9.33 SCN2A SCN1B SCN1A
6 sodium channel complex GO:0034706 9.13 SCN2A SCN1B SCN1A
7 voltage-gated sodium channel complex GO:0001518 8.92 SCN9A SCN2A SCN1B SCN1A

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.8 SCN9A SCN2A SCN1B SCN1A KCNMB3 GABRG2
2 regulation of ion transmembrane transport GO:0034765 9.71 SCN9A SCN2A SCN1B SCN1A
3 regulation of membrane potential GO:0042391 9.69 SCN1A GABRG2 GABRD
4 sodium ion transport GO:0006814 9.67 SCN9A SCN2A SCN1B SCN1A
5 cation transmembrane transport GO:0098655 9.65 SCN9A SCN2A SCN1A
6 sodium ion transmembrane transport GO:0035725 9.62 SCN9A SCN2A SCN1B SCN1A
7 nervous system process GO:0050877 9.61 GABRG2 GABRD ADGRV1
8 action potential GO:0001508 9.52 SCN1A KCNMB3
9 cardiac muscle cell action potential involved in contraction GO:0086002 9.49 SCN1B SCN1A
10 neuronal action potential propagation GO:0019227 9.46 SCN1B SCN1A
11 ion transmembrane transport GO:0034220 9.43 SCN9A SCN2A SCN1B SCN1A GABRG2 GABRD
12 membrane depolarization during action potential GO:0086010 9.33 SCN9A SCN2A SCN1A
13 neuronal action potential GO:0019228 8.92 SCN9A SCN2A SCN1A KCNMB3

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

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.56 SCN9A SCN2A SCN1B SCN1A
2 ion channel activity GO:0005216 9.55 SCN9A SCN2A SCN1A GABRG2 GABRD
3 cation channel activity GO:0005261 9.5 SCN9A SCN2A SCN1A
4 GABA-A receptor activity GO:0004890 9.37 GABRG2 GABRD
5 sodium channel activity GO:0005272 9.26 SCN9A SCN2A SCN1B SCN1A
6 voltage-gated sodium channel activity GO:0005248 8.92 SCN9A SCN2A SCN1B SCN1A

Sources for Familial Febrile Seizures

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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