FEB1
MCID: FBR073
MIFTS: 40

Febrile Seizures, Familial, 1 (FEB1)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Febrile Seizures, Familial, 1

MalaCards integrated aliases for Febrile Seizures, Familial, 1:

Name: Febrile Seizures, Familial, 1 57 29 13 6
Familial Febrile Seizures 1 12 15
Feb1 57 12
Convulsions, Familial Febrile, 1 57
Familial Febrile Convulsions 1 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity
onset 3 months of age up to 5 years
seizures remit by age 5 years
incidence 2-5% of north american children
incidence 7-15% in pacific island populations


HPO:

31
febrile seizures, familial, 1:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course childhood onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0111307
OMIM® 57 121210
OMIM Phenotypic Series 57 PS121210
MedGen 41 C1852577

Summaries for Febrile Seizures, Familial, 1

OMIM® : 57 Childhood seizures associated with febrile episodes are relatively common and represent the majority of childhood seizures. A febrile convulsion is defined as a seizure event in infancy or childhood, usually occurring between 6 months and 6 years of age, associated with fever but without any evidence of intracranial infection or defined pathologic or traumatic cause (Nabbout et al., 2002). Although the majority of patients do not develop epilepsy, the risk of developing subsequent afebrile seizures is 5 to 7 times higher in those with a history of febrile seizures compared to the general population (Annegers et al., 1987; Hedera et al., 2006). The FEB1 locus maps to chromosome 8q13-q21. (121210) (Updated 05-Apr-2021)

MalaCards based summary : Febrile Seizures, Familial, 1, also known as familial febrile seizures 1, is related to generalized epilepsy with febrile seizures plus, type 1 and febrile seizures, familial, 11. An important gene associated with Febrile Seizures, Familial, 1 is FEB1 (Febrile Convulsions 1), and among its related pathways/superpathways are Cardiac conduction and Neuropathic Pain-Signaling in Dorsal Horn Neurons. Affiliated tissues include temporal lobe, liver and lung, and related phenotypes are atonic seizure and bilateral tonic-clonic seizure

Disease Ontology : 12 A familial febrile seizures that has material basis in variation in a region on chromosome 8q13-q21.

Related Diseases for Febrile Seizures, Familial, 1

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 Febrile Seizures, Familial, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 generalized epilepsy with febrile seizures plus, type 1 31.7 SCN1B SCN1A
2 febrile seizures, familial, 11 31.2 TBC1D22A SCN1A GABRG2 ADGRV1
3 genetic epilepsy with febrile seizures plus 30.2 SCN9A SCN2A SCN1A
4 febrile seizures 29.4 SCN9A SCN2A SCN1B SCN1A-AS1 SCN1A GABRG2
5 seizure disorder 29.0 SCN2A SCN1B SCN1A KCNQ3 GABRG2 CHRNA4
6 epilepsy 28.1 SCN9A SCN2A SCN1B SCN1A-AS1 SCN1A KCNQ3
7 generalized epilepsy with febrile seizures plus 28.1 SCN9A SCN2A SCN1B SCN1A-AS1 SCN1A KCNQ3
8 indifference to pain, congenital, autosomal recessive 10.3 SCN9A SCN1A-AS1
9 verbal auditory agnosia 10.2 SCN1B GABRG2
10 myoclonic epilepsy of infancy 10.2 SCN1A GABRG2
11 progressive familial heart block, type ia 10.2 SCN9A SCN1A
12 sodium channelopathy-related small fiber neuropathy 10.2 SCN9A SCN1A-AS1
13 trigeminal neuralgia 10.2 SCN9A SCN1A
14 erythermalgia, primary 10.1 SCN9A SCN1A-AS1
15 coffin-siris syndrome 4 10.1 SCN9A SCN2A
16 partial motor epilepsy 10.1 SCN2A SCN1A
17 low-grade astrocytoma 10.1 SCN2A SCN1A
18 autonomic nervous system disease 10.1 SCN9A SCN1A
19 trigeminal nerve disease 10.1 SCN9A SCN2A SCN1A
20 hyperkalemic periodic paralysis 10.1 SCN9A SCN2A SCN1A
21 migraine, familial hemiplegic, 3 10.1 SCN9A SCN2A SCN1A
22 developmental and epileptic encephalopathy 13 10.1 SCN2A SCN1B SCN1A
23 epilepsy, familial temporal lobe, 1 10.0 SCN1B EFHC1 ADGRV1
24 landau-kleffner syndrome 10.0 SCN2A SCN1A GABRG2
25 sturge-weber syndrome 10.0 SCN1A GABRG2
26 developmental and epileptic encephalopathy 14 10.0 SCN2A SCN1A CHRNA4
27 erythromelalgia 9.9 SCN9A SCN2A SCN1A-AS1 SCN1A
28 paramyotonia congenita of von eulenburg 9.9 SCN9A SCN2A SCN1B SCN1A
29 long qt syndrome 3 9.9 SCN1B SCN1A
30 brugada syndrome 9.9 SCN9A SCN2A SCN1B SCN1A
31 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 9.9 KCNQ3 CHRNA4
32 reflex epilepsy 9.8 SCN2A SCN1A GABRG2 CHRNA4
33 febrile seizures, familial, 6 9.8 TBC1D22A SCN1B SCN1A GABRG2
34 juvenile absence epilepsy 9.8 SCN1A GABRG2 EFHC1 CHRNA4
35 focal epilepsy 9.8 SCN2A SCN1A GABRG2 CHRNA4
36 paroxysmal extreme pain disorder 9.8 SCN9A SCN2A SCN1B SCN1A-AS1 SCN1A
37 febrile seizures, familial, 8 9.7 TBC1D22A SCN1B SCN1A GABRG2 ADGRV1
38 febrile seizures, familial, 4 9.7 TBC1D22A SCN1B SCN1A GABRG2 ADGRV1
39 generalized epilepsy with febrile seizures plus, type 2 9.7 TBC1D22A SCN9A SCN1B SCN1A GABRG2
40 episodic ataxia 9.7 SCN2A SCN1A KCNQ3
41 epilepsy with generalized tonic-clonic seizures 9.7 SCN2A SCN1B SCN1A GABRG2 EFHC1
42 febrile seizures, familial, 5 9.6 TBC1D22A SCN2A SCN1B SCN1A GABRG2
43 epilepsy, familial temporal lobe, 5 9.6 TBC1D22A SCN9A SCN1B SCN1A GABRG2 ADGRV1
44 infancy electroclinical syndrome 9.6 SCN2A SCN1B SCN1A KCNQ3
45 migraine with or without aura 1 9.6 SCN9A SCN2A SCN1A KCNQ3
46 generalized epilepsy with febrile seizures plus, type 7 9.5 TBC1D22A SCN9A SCN1B SCN1A-AS1 SCN1A GABRG2
47 epilepsy, nocturnal frontal lobe, 1 9.5 SCN1B SCN1A KCNQ3 GABRG2 CHRNA4
48 west syndrome 9.4 SCN2A SCN1B SCN1A KCNQ3 GABRG2
49 lennox-gastaut syndrome 9.3 SCN9A SCN2A SCN1B SCN1A KCNQ3 GABRG2
50 benign familial neonatal epilepsy 9.3 SCN2A SCN1B SCN1A KCNQ3 GABRG2 CHRNA4

Graphical network of the top 20 diseases related to Febrile Seizures, Familial, 1:



Diseases related to Febrile Seizures, Familial, 1

Symptoms & Phenotypes for Febrile Seizures, Familial, 1

Human phenotypes related to Febrile Seizures, Familial, 1:

31
# Description HPO Frequency HPO Source Accession
1 atonic seizure 31 HP:0010819
2 bilateral tonic-clonic seizure 31 HP:0002069
3 febrile seizure (within the age range of 3 months to 6 years) 31 HP:0002373
4 generalized tonic seizure 31 HP:0010818

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
generalized tonic-clonic seizures
seizures, generalized, associated with fever
hypertonic seizures
hypotonic seizures
seizures occur in absence of intracranial infection or defined pathologic or traumatic cause
more

Clinical features from OMIM®:

121210 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Febrile Seizures, Familial, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.65 ADGRV1 CHRNA4 EFHC1 GABRG2 KCNQ3 SCN1A
2 nervous system MP:0003631 9.32 ADGRV1 CHRNA4 EFHC1 GABRG2 KCNQ3 SCN1A

Drugs & Therapeutics for Febrile Seizures, Familial, 1

Search Clinical Trials , NIH Clinical Center for Febrile Seizures, Familial, 1

Genetic Tests for Febrile Seizures, Familial, 1

Genetic tests related to Febrile Seizures, Familial, 1:

# Genetic test Affiliating Genes
1 Febrile Seizures, Familial, 1 29

Anatomical Context for Febrile Seizures, Familial, 1

MalaCards organs/tissues related to Febrile Seizures, Familial, 1:

40
Temporal Lobe, Liver, Lung

Publications for Febrile Seizures, Familial, 1

Articles related to Febrile Seizures, Familial, 1:

(show all 31)
# Title Authors PMID Year
1
Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy. 57
21922598 2012
2
Augmented currents of an HCN2 variant in patients with febrile seizure syndromes. 57
20437590 2010
3
Genetics of epilepsy syndromes starting in the first year of life. 57
19153375 2009
4
Identification of a novel locus for febrile seizures and epilepsy on chromosome 21q22. 57
17054683 2006
5
Phenotypic features of familial febrile seizures: case-control study. 57
12578920 2003
6
A locus for simple pure febrile seizures maps to chromosome 6q22-q24. 57
12429594 2002
7
Characteristics of the initial seizure in familial febrile seizures. 57
10325737 1999
8
Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest. 57
9384604 1998
9
Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21. 57
8730286 1996
10
Pedigree analysis in families with febrile seizures. 57
8834046 1996
11
Complex segregation analysis of febrile convulsions. 57
3618594 1987
12
Factors prognostic of unprovoked seizures after febrile convulsions. 57
3807992 1987
13
Genetic considerations in childhood epilepsy. 57
3113931 1987
14
Antioxidant and physicochemical characteristics of unfermented and fermented pomegranate (Punica granatum L.) beverages. 61
30728554 2019
15
The association of Generalized Epilepsy with Febrile Seizures plus (GEFS+) with FEB1 gene: A new insight to the etiology of GEFS+: PS232. 61
32258734 2017
16
The prevalence of Familial Mediterranean Fever common gene mutations in patients with simple febrile seizures. 61
24668705 2014
17
Genetic background of febrile seizures. 61
24399675 2014
18
Segregation of a haplotype encompassing FEB1 with genetic epilepsy with febrile seizures plus in a Colombian family. 61
23773973 2013
19
Molecular genetics of febrile seizures. 61
16887333 2006
20
Molecular genetics of febrile seizures. 61
12383277 2002
21
Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A. 61
11823106 2002
22
Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31. 61
11409431 2001
23
Evidence favoring genetic heterogeneity for febrile convulsions. 61
10691109 2000
24
Significant evidence for linkage of febrile seizures to chromosome 5q14-q15. 61
10587582 2000
25
A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33. 61
10486327 1999
26
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. 61
9697698 1998
27
Laparoscopic cholecystectomy under epidural anesthesia in patients with chronic respiratory disease. 61
9685547 1998
28
Effects of cigarette smoking on lung function in adolescent boys and girls. 61
8782500 1996
29
Characterization of the [4Fe-4S]+ cluster at the active site of aconitase by 57Fe, 33S, and 14N electron nuclear double resonance spectroscopy. 61
2271662 1990
30
Suppression of ventricular ectopy with intravenous metoprolol in patients with chronic obstructive pulmonary disease. 61
6690202 1984
31
[alpha-n-benzoylarginine-2-naphthylamide-amidohydrolase activity in chicken liver (author's transl)]. 61
6904059 1980

Variations for Febrile Seizures, Familial, 1

ClinVar genetic disease variations for Febrile Seizures, Familial, 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ADGRV1 NM_032119.4(ADGRV1):c.1093G>T (p.Asp365Tyr) SNV Uncertain significance 522916 rs372147148 GRCh37: 5:89923448-89923448
GRCh38: 5:90627631-90627631
2 ADGRV1 NM_032119.4(ADGRV1):c.13537C>A (p.Pro4513Thr) SNV Uncertain significance 587575 rs751291710 GRCh37: 5:90079758-90079758
GRCh38: 5:90783941-90783941
3 SCN1A-AS1 , SCN9A NM_001365536.1(SCN9A):c.1285C>T (p.Arg429Cys) SNV Uncertain significance 548618 rs763256222 GRCh37: 2:167144976-167144976
GRCh38: 2:166288466-166288466
4 ADGRV1 NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val) SNV Uncertain significance 158655 rs114137750 GRCh37: 5:90016778-90016778
GRCh38: 5:90720961-90720961

Expression for Febrile Seizures, Familial, 1

Search GEO for disease gene expression data for Febrile Seizures, Familial, 1.

Pathways for Febrile Seizures, Familial, 1

GO Terms for Febrile Seizures, Familial, 1

Cellular components related to Febrile Seizures, Familial, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.17 USE1 SMCO4 SCN9A SCN2A SCN1B SCN1A
2 integral component of plasma membrane GO:0005887 9.93 SCN9A SCN2A SCN1B KCNQ3 GABRG2 CHRNA4
3 axon GO:0030424 9.77 SCN9A SCN2A SCN1B SCN1A GABRG2
4 intercalated disc GO:0014704 9.5 SCN2A SCN1B SCN1A
5 T-tubule GO:0030315 9.43 SCN2A SCN1B SCN1A
6 axon initial segment GO:0043194 9.4 SCN1A KCNQ3
7 sodium channel complex GO:0034706 9.33 SCN2A SCN1B SCN1A
8 voltage-gated sodium channel complex GO:0001518 9.26 SCN9A SCN2A SCN1B SCN1A
9 node of Ranvier GO:0033268 8.92 SCN2A SCN1B SCN1A KCNQ3

Biological processes related to Febrile Seizures, Familial, 1 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.89 SCN9A SCN2A SCN1A MFSD10 KCNQ3
2 sodium ion transport GO:0006814 9.71 SCN9A SCN2A SCN1B SCN1A
3 ion transport GO:0006811 9.7 SCN9A SCN2A SCN1B SCN1A KCNQ3 GABRG2
4 regulation of membrane potential GO:0042391 9.69 SCN1A GABRG2 CHRNA4
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 CHRNA4 ADGRV1
8 membrane depolarization GO:0051899 9.55 SCN1B CHRNA4
9 action potential GO:0001508 9.54 SCN1A CHRNA4
10 neuronal action potential GO:0019228 9.54 SCN9A SCN2A SCN1A
11 cardiac muscle cell action potential involved in contraction GO:0086002 9.52 SCN1B SCN1A
12 neuronal action potential propagation GO:0019227 9.46 SCN1B SCN1A
13 membrane depolarization during action potential GO:0086010 9.43 SCN9A SCN2A SCN1A
14 regulation of ion transmembrane transport GO:0034765 9.35 SCN9A SCN2A SCN1B SCN1A KCNQ3
15 ion transmembrane transport GO:0034220 9.17 SCN9A SCN2A SCN1B SCN1A KCNQ3 GABRG2

Molecular functions related to Febrile Seizures, Familial, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.65 SCN9A SCN2A SCN1B SCN1A KCNQ3
2 cation channel activity GO:0005261 9.5 SCN9A SCN2A SCN1A
3 sodium channel activity GO:0005272 9.46 SCN9A SCN2A SCN1B SCN1A
4 ion channel activity GO:0005216 9.43 SCN9A SCN2A SCN1A KCNQ3 GABRG2 CHRNA4
5 voltage-gated sodium channel activity GO:0005248 8.92 SCN9A SCN2A SCN1B SCN1A

Sources for Febrile Seizures, Familial, 1

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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