FEB6
MCID: FBR074
MIFTS: 27

Febrile Seizures, Familial, 6 (FEB6)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Febrile Seizures, Familial, 6

MalaCards integrated aliases for Febrile Seizures, Familial, 6:

Name: Febrile Seizures, Familial, 6 56 13
Familial Febrile Seizures 6 12 15
Feb6 56 12
Convulsions, Familial Febrile, 6 56
Familial Febrile Convulsions 6 12

Characteristics:

OMIM:

56
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, 6:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course childhood onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0111309
OMIM 56 609253
OMIM Phenotypic Series 56 PS121210
MedGen 41 C1836518

Summaries for Febrile Seizures, Familial, 6

Disease Ontology : 12 A familial febrile seizures that has material basis in variation in a region on chromosome 18p11.2.

MalaCards based summary : Febrile Seizures, Familial, 6, also known as familial febrile seizures 6, is related to familial febrile seizures and myoclonic epilepsy of infancy. An important gene associated with Febrile Seizures, Familial, 6 is FEB6 (Febrile Convulsions 6), and among its related pathways/superpathways is Interaction between L1 and Ankyrins. Related phenotypes are atonic seizure and bilateral tonic-clonic seizure

More information from OMIM: 609253 PS121210

Related Diseases for Febrile Seizures, Familial, 6

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

(show all 48)
# Related Disease Score Top Affiliating Genes
1 familial febrile seizures 30.4 SCN1B SCN1A RTL5 MOB4 GABRG2 FEB6
2 myoclonic epilepsy of infancy 10.3 SCN1A GABRG2
3 febrile seizures, familial, 10 10.3 SCN1A RTL5
4 reflex epilepsy 10.2 SCN1A GABRG2
5 landau-kleffner syndrome 10.2 SCN1A GABRG2
6 epileptic encephalopathy, early infantile, 13 10.2 SCN1B SCN1A
7 verbal auditory agnosia 10.2 SCN1B GABRG2
8 juvenile absence epilepsy 10.1 SCN1A GABRG2
9 infancy electroclinical syndrome 10.1 SCN1B SCN1A
10 sturge-weber syndrome 10.0 SCN1A GABRG2
11 generalized epilepsy with febrile seizures plus 10.0 SCN1B SCN1A GABRG2
12 early onset absence epilepsy 10.0 SCN1B SCN1A GABRG2
13 generalized epilepsy with febrile seizures plus, type 1 10.0 SCN1B SCN1A GABRG2
14 epilepsy, nocturnal frontal lobe, 1 10.0 SCN1B SCN1A GABRG2
15 epilepsy with generalized tonic-clonic seizures 10.0 SCN1B SCN1A GABRG2
16 benign familial neonatal epilepsy 10.0 SCN1B SCN1A GABRG2
17 adolescence-adult electroclinical syndrome 10.0 SCN1B SCN1A GABRG2
18 electroclinical syndrome 10.0 SCN1B SCN1A GABRG2
19 photosensitive epilepsy 10.0 SCN1B SCN1A GABRG2
20 childhood electroclinical syndrome 10.0 SCN1B SCN1A GABRG2
21 benign neonatal seizures 10.0 SCN1B SCN1A GABRG2
22 neonatal period electroclinical syndrome 10.0 SCN1B SCN1A GABRG2
23 benign familial infantile epilepsy 10.0 SCN1B SCN1A GABRG2
24 lennox-gastaut syndrome 9.9 SCN1B SCN1A GABRG2
25 autosomal dominant nocturnal frontal lobe epilepsy 9.9 SCN1B SCN1A GABRG2
26 paramyotonia congenita of von eulenburg 9.9 SCN1B SCN1A
27 early myoclonic encephalopathy 9.9 SCN1B SCN1A GABRG2
28 epileptic encephalopathy, early infantile, 6 9.9 SCN1B SCN1A GABRG2
29 epilepsy, myoclonic juvenile 9.9 SCN1B SCN1A GABRG2
30 benign epilepsy with centrotemporal spikes 9.9 SCN1B SCN1A GABRG2
31 childhood absence epilepsy 9.9 SCN1B SCN1A GABRG2
32 epilepsy, idiopathic generalized 9.9 SCN1B SCN1A GABRG2
33 focal epilepsy 9.8 SCN1B SCN1A GABRG2
34 febrile seizures, familial, 11 9.8 TBC1D22A SCN1A GABRG2
35 west syndrome 9.8 SCN1B SCN1A GABRG2
36 febrile seizures, familial, 2 9.8 SCN1B SCN1A MOB4 GABRG2
37 visual epilepsy 9.8 SCN1B SCN1A GABRG2
38 febrile seizures, familial, 4 9.8 SCN1B SCN1A MOB4 GABRG2
39 febrile seizures 9.7 SCN1B SCN1A IMPA2 GABRG2
40 paroxysmal extreme pain disorder 9.7 SCN1B SCN1A
41 febrile seizures, familial, 9 9.7 SLC4A7 RTL5 IMPA2
42 febrile seizures, familial, 1 9.7 SCN1B SCN1A GABRG2 EXOSC1
43 early infantile epileptic encephalopathy 9.6 SCN1B SCN1A GABRG2
44 febrile seizures, familial, 5 9.5 TBC1D22A SCN1B SCN1A GABRG2
45 generalized epilepsy with febrile seizures plus, type 2 9.5 TBC1D22A SCN1B SCN1A GABRG2
46 generalized epilepsy with febrile seizures plus, type 7 9.5 TBC1D22A SCN1B SCN1A GABRG2
47 febrile seizures, familial, 8 9.5 TBC1D22A SCN1B SCN1A GABRG2
48 epilepsy, familial temporal lobe, 5 9.5 TBC1D22A SCN1B SCN1A GABRG2

Graphical network of the top 20 diseases related to Febrile Seizures, Familial, 6:



Diseases related to Febrile Seizures, Familial, 6

Symptoms & Phenotypes for Febrile Seizures, Familial, 6

Human phenotypes related to Febrile Seizures, Familial, 6:

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:

56
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:

609253

GenomeRNAi Phenotypes related to Febrile Seizures, Familial, 6 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 9.78 SCN1B
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.78 SCN1B SLC4A7
3 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.78 IMPA2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.78 IMPA2 SCN1B
5 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.78 SLC4A7
6 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.78 SCN1B
7 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.78 SCN1B
8 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.78 SCN1B
9 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.78 SCN1A
10 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.78 SCN1A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-191 9.78 SCN1A
12 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.78 SCN1B
13 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.78 IMPA2 SCN1A SCN1B SLC4A7
14 Increased shRNA abundance (Z-score > 2) GR00366-A-216 9.78 SCN1A
15 Increased shRNA abundance (Z-score > 2) GR00366-A-27 9.78 SCN1B
16 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.78 SCN1A
17 Increased shRNA abundance (Z-score > 2) GR00366-A-33 9.78 IMPA2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.78 IMPA2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.78 SCN1B
20 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.78 SCN1B
21 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.78 SLC4A7
22 Increased shRNA abundance (Z-score > 2) GR00366-A-71 9.78 SLC4A7
23 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.78 SCN1B
24 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.78 SCN1A

Drugs & Therapeutics for Febrile Seizures, Familial, 6

Search Clinical Trials , NIH Clinical Center for Febrile Seizures, Familial, 6

Genetic Tests for Febrile Seizures, Familial, 6

Anatomical Context for Febrile Seizures, Familial, 6

Publications for Febrile Seizures, Familial, 6

Articles related to Febrile Seizures, Familial, 6:

# Title Authors PMID Year
1
Linkage and association of febrile seizures to the IMPA2 gene on human chromosome 18. 56
15557493 2004
2
FeB6 Monolayers: The Graphene-like Material with Hypercoordinate Transition Metal. 61
27035286 2016
3
Molecular genetics of febrile seizures. 61
16887333 2006

Variations for Febrile Seizures, Familial, 6

Expression for Febrile Seizures, Familial, 6

Search GEO for disease gene expression data for Febrile Seizures, Familial, 6.

Pathways for Febrile Seizures, Familial, 6

Pathways related to Febrile Seizures, Familial, 6 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.1 SCN1B SCN1A

GO Terms for Febrile Seizures, Familial, 6

Cellular components related to Febrile Seizures, Familial, 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 T-tubule GO:0030315 9.32 SCN1B SCN1A
2 intercalated disc GO:0014704 9.26 SCN1B SCN1A
3 voltage-gated sodium channel complex GO:0001518 9.16 SCN1B SCN1A
4 node of Ranvier GO:0033268 8.96 SCN1B SCN1A
5 sodium channel complex GO:0034706 8.62 SCN1B SCN1A

Biological processes related to Febrile Seizures, Familial, 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.62 SLC4A7 SCN1B SCN1A GABRG2
2 sodium ion transport GO:0006814 9.43 SLC4A7 SCN1B SCN1A
3 cardiac muscle cell action potential involved in contraction GO:0086002 9.16 SCN1B SCN1A
4 neuronal action potential propagation GO:0019227 8.96 SCN1B SCN1A
5 sodium ion transmembrane transport GO:0035725 8.8 SLC4A7 SCN1B SCN1A

Molecular functions related to Febrile Seizures, Familial, 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sodium channel activity GO:0005272 8.96 SCN1B SCN1A
2 voltage-gated sodium channel activity GO:0005248 8.62 SCN1B SCN1A

Sources for Febrile Seizures, Familial, 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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