FEB2
MCID: FBR075
MIFTS: 32

Febrile Seizures, Familial, 2 (FEB2)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Febrile Seizures, Familial, 2

MalaCards integrated aliases for Febrile Seizures, Familial, 2:

Name: Febrile Seizures, Familial, 2 57 13
Familial Febrile Seizures 2 12 15
Feb2 57 12
Convulsions, Familial Febrile, 2 57
Familial Febrile Convulsions 2 12

Characteristics:

OMIM®:

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

Miscellaneous:
onset 3 months of age up to 5 years
seizures remit by age 5 years
genetic heterogeneity (see feb1 )


HPO:

31
febrile seizures, familial, 2:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0111310
OMIM® 57 602477
OMIM Phenotypic Series 57 PS121210
MedGen 41 C1865342

Summaries for Febrile Seizures, Familial, 2

Disease Ontology : 12 A familial febrile seizures that has material basis in variation in a region on chromosome 19p13.3.

MalaCards based summary : Febrile Seizures, Familial, 2, also known as familial febrile seizures 2, is related to febrile seizures and febrile seizures, familial, 1. An important gene associated with Febrile Seizures, Familial, 2 is FEB2 (Febrile Convulsions 2), and among its related pathways/superpathways are L1CAM interactions and Phase 0 - rapid depolarisation. Affiliated tissues include temporal lobe, and related phenotypes are atonic seizure and bilateral tonic-clonic seizure

More information from OMIM: 602477 PS121210

Related Diseases for Febrile Seizures, Familial, 2

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, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 febrile seizures 29.9 SCN2A SCN1B SCN1A GABRG2
2 febrile seizures, familial, 1 29.1 SCN2A SCN1B SCN1A KCNQ3 GABRG2 EFHC1
3 familial febrile seizures 27.6 ZNF358 VASP TMEM163 SCN2A SCN1B SCN1A
4 myoclonic epilepsy of infancy 10.2 SCN1A GABRG2
5 verbal auditory agnosia 10.2 SCN1B GABRG2
6 generalized epilepsy with febrile seizures plus, type 1 10.2 SCN1B SCN1A
7 febrile seizures, familial, 11 10.2 SCN1A GABRG2
8 genetic epilepsy with febrile seizures plus 10.2 SCN2A SCN1A
9 partial motor epilepsy 10.2 SCN2A SCN1A
10 sturge-weber syndrome 10.2 SCN1A GABRG2
11 long qt syndrome 3 10.2 SCN1B SCN1A
12 developmental and epileptic encephalopathy 14 10.2 SCN2A SCN1A
13 low-grade astrocytoma 10.1 SCN2A SCN1A
14 trigeminal nerve disease 10.1 SCN2A SCN1A
15 epilepsy, familial temporal lobe, 5 10.1 SCN1B SCN1A GABRG2
16 febrile seizures, familial, 8 10.1 SCN1B SCN1A GABRG2
17 generalized epilepsy with febrile seizures plus, type 2 10.1 SCN1B SCN1A GABRG2
18 hyperkalemic periodic paralysis 10.1 SCN2A SCN1A
19 generalized epilepsy with febrile seizures plus, type 7 10.1 SCN1B SCN1A GABRG2
20 developmental and epileptic encephalopathy 13 10.1 SCN2A SCN1B SCN1A
21 migraine, familial hemiplegic, 3 10.1 SCN2A SCN1A
22 paramyotonia congenita of von eulenburg 10.1 SCN2A SCN1B SCN1A
23 reflex epilepsy 10.1 SCN2A SCN1A GABRG2
24 juvenile absence epilepsy 10.1 SCN1A GABRG2 EFHC1
25 paroxysmal extreme pain disorder 10.1 SCN2A SCN1B SCN1A
26 landau-kleffner syndrome 10.1 SCN2A SCN1A GABRG2
27 malignant migrating partial seizures of infancy 10.1 SCN2A SCN1A
28 epilepsy, familial temporal lobe, 1 10.0 SCN1B EFHC1
29 focal epilepsy 10.0 SCN2A SCN1A GABRG2
30 febrile seizures, familial, 5 9.9 SCN2A SCN1B SCN1A GABRG2
31 episodic ataxia 9.9 SCN2A SCN1A KCNQ3
32 epilepsy, nocturnal frontal lobe, 1 9.9 SCN1B SCN1A KCNQ3 GABRG2
33 erythromelalgia 9.9 SCN2A SCN1A
34 infancy electroclinical syndrome 9.8 SCN2A SCN1B SCN1A KCNQ3
35 epilepsy with generalized tonic-clonic seizures 9.8 SCN2A SCN1B SCN1A GABRG2 EFHC1
36 febrile seizures, familial, 6 9.7 SCN1B SCN1A PNRC1 GABRG2
37 migraine with or without aura 1 9.7 SCN2A SCN1A KCNQ3
38 benign familial neonatal epilepsy 9.7 SCN2A SCN1B SCN1A KCNQ3 GABRG2
39 unverricht-lundborg syndrome 9.7 SCN1B SCN1A KCNQ3 GABRG2 EFHC1
40 lennox-gastaut syndrome 9.7 SCN2A SCN1B SCN1A KCNQ3 GABRG2
41 benign neonatal seizures 9.6 SCN2A SCN1B SCN1A KCNQ3 EFHC1
42 west syndrome 9.6 SCN2A SCN1B SCN1A KCNQ3 GABRG2
43 seizure disorder 9.6 SCN2A SCN1B SCN1A KCNQ3 GABRG2
44 early onset absence epilepsy 9.5 SCN2A SCN1B SCN1A KCNQ3 GABRG2 EFHC1
45 epilepsy 9.5 SCN2A SCN1B SCN1A KCNQ3 GABRG2 EFHC1
46 adolescence-adult electroclinical syndrome 9.5 SCN2A SCN1B SCN1A KCNQ3 GABRG2 EFHC1
47 photosensitive epilepsy 9.5 SCN2A SCN1B SCN1A KCNQ3 GABRG2 EFHC1
48 childhood electroclinical syndrome 9.5 SCN2A SCN1B SCN1A KCNQ3 GABRG2 EFHC1
49 neonatal period electroclinical syndrome 9.5 SCN2A SCN1B SCN1A KCNQ3 GABRG2 EFHC1
50 benign familial infantile epilepsy 9.5 SCN2A SCN1B SCN1A KCNQ3 GABRG2 EFHC1

Graphical network of the top 20 diseases related to Febrile Seizures, Familial, 2:



Diseases related to Febrile Seizures, Familial, 2

Symptoms & Phenotypes for Febrile Seizures, Familial, 2

Human phenotypes related to Febrile Seizures, Familial, 2:

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®:

602477 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Febrile Seizures, Familial, 2 according to GeneCards Suite gene sharing:

26 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-104 9.72 SCN1B
2 Increased shRNA abundance (Z-score > 2) GR00366-A-109 9.72 REPIN1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.72 SCN1B
4 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.72 SCN1B
5 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.72 SCN2A
6 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.72 SCN1B
7 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.72 SCN1B
8 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.72 REPIN1 SCN2A
9 Increased shRNA abundance (Z-score > 2) GR00366-A-155 9.72 REPIN1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.72 SCN2A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.72 REPIN1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.72 SCN1B
13 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.72 SCN2A
14 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.72 SCN1B
15 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.72 SCN1B
16 Increased shRNA abundance (Z-score > 2) GR00366-A-27 9.72 SCN1B
17 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.72 SCN1B
18 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.72 SCN2A
19 Increased shRNA abundance (Z-score > 2) GR00366-A-53 9.72 SCN2A
20 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.72 SCN1B
21 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.72 SCN2A
22 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.72 SCN1B
23 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.72 REPIN1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.72 SCN2A

Drugs & Therapeutics for Febrile Seizures, Familial, 2

Search Clinical Trials , NIH Clinical Center for Febrile Seizures, Familial, 2

Genetic Tests for Febrile Seizures, Familial, 2

Anatomical Context for Febrile Seizures, Familial, 2

MalaCards organs/tissues related to Febrile Seizures, Familial, 2:

40
Temporal Lobe

Publications for Febrile Seizures, Familial, 2

Articles related to Febrile Seizures, Familial, 2:

(show all 16)
# Title Authors PMID Year
1
Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest. 57 61
9384604 1998
2
Antioxidant and physicochemical characteristics of unfermented and fermented pomegranate (Punica granatum L.) beverages. 61
30728554 2019
3
First principles study of electronic transport properties in novel FeB2 flake-based nanodevices. 61
29372726 2018
4
Dirac State in the FeB2 Monolayer with Graphene-Like Boron Sheet. 61
27580054 2016
5
The prevalence of Familial Mediterranean Fever common gene mutations in patients with simple febrile seizures. 61
24668705 2014
6
New superconducting and semiconducting Fe-B compounds predicted with an ab initio evolutionary search. 61
21231344 2010
7
Molecular genetics of febrile seizures. 61
16887333 2006
8
Insights into the effects on metal binding of the systematic substitution of five key glutamate ligands in the ferritin of Escherichia coli. 61
12730190 2003
9
Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A. 61
11823106 2002
10
Molecular genetics of febrile seizures. 61
12383277 2002
11
Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31. 61
11409431 2001
12
Evidence favoring genetic heterogeneity for febrile convulsions. 61
10691109 2000
13
Significant evidence for linkage of febrile seizures to chromosome 5q14-q15. 61
10587582 2000
14
A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33. 61
10486327 1999
15
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. 61
9697698 1998
16
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

Variations for Febrile Seizures, Familial, 2

Expression for Febrile Seizures, Familial, 2

Search GEO for disease gene expression data for Febrile Seizures, Familial, 2.

Pathways for Febrile Seizures, Familial, 2

Pathways related to Febrile Seizures, Familial, 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.35 SCN2A SCN1B SCN1A KCNQ3
2
Show member pathways
11.21 SCN2A SCN1B SCN1A
3 10.4 SCN2A SCN1B SCN1A KCNQ3

GO Terms for Febrile Seizures, Familial, 2

Cellular components related to Febrile Seizures, Familial, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.71 SCN2A SCN1B SCN1A GABRG2
2 intercalated disc GO:0014704 9.5 SCN2A SCN1B SCN1A
3 T-tubule GO:0030315 9.43 SCN2A SCN1B SCN1A
4 axon initial segment GO:0043194 9.37 SCN1A KCNQ3
5 voltage-gated sodium channel complex GO:0001518 9.33 SCN2A SCN1B SCN1A
6 sodium channel complex GO:0034706 9.13 SCN2A SCN1B SCN1A
7 node of Ranvier GO:0033268 8.92 SCN2A SCN1B SCN1A KCNQ3

Biological processes related to Febrile Seizures, Familial, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.65 SCN2A SCN1B SCN1A KCNQ3 GABRG2
2 sodium ion transport GO:0006814 9.61 SCN2A SCN1B SCN1A
3 sodium ion transmembrane transport GO:0035725 9.5 SCN2A SCN1B SCN1A
4 neuronal action potential GO:0019228 9.46 SCN2A SCN1A
5 membrane depolarization during action potential GO:0086010 9.4 SCN2A SCN1A
6 cardiac muscle cell action potential involved in contraction GO:0086002 9.37 SCN1B SCN1A
7 regulation of ion transmembrane transport GO:0034765 9.26 SCN2A SCN1B SCN1A KCNQ3
8 neuronal action potential propagation GO:0019227 9.16 SCN1B SCN1A
9 ion transmembrane transport GO:0034220 9.02 SCN2A SCN1B SCN1A KCNQ3 GABRG2

Molecular functions related to Febrile Seizures, Familial, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.56 SCN2A SCN1A KCNQ3 GABRG2
2 voltage-gated ion channel activity GO:0005244 9.46 SCN2A SCN1B SCN1A KCNQ3
3 sodium channel activity GO:0005272 9.13 SCN2A SCN1B SCN1A
4 voltage-gated sodium channel activity GO:0005248 8.8 SCN2A SCN1B SCN1A

Sources for Febrile Seizures, Familial, 2

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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