FEB6
MCID: FBR074
MIFTS: 28

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 57 13
Familial Febrile Seizures 6 12 15
Feb6 57 12
Convulsions, Familial Febrile, 6 57
Familial Febrile Convulsions 6 12

Characteristics:

OMIM®:

57 (Updated 05-Mar-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, 6:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course childhood onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0111309
OMIM® 57 609253
OMIM Phenotypic Series 57 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 verbal auditory agnosia 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 top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 verbal auditory agnosia 10.2 SCN1B GABRG2
2 myoclonic epilepsy of infancy 10.2 SCN1A GABRG2
3 reflex epilepsy 10.2 SCN1A GABRG2
4 developmental and epileptic encephalopathy 13 10.1 SCN1B SCN1A
5 landau-kleffner syndrome 10.1 SCN1A GABRG2
6 juvenile absence epilepsy 10.1 SCN1A GABRG2
7 cataract 14, multiple types 10.1 SLC4A8 GABRG2
8 infancy electroclinical syndrome 10.1 SCN1B SCN1A
9 benign neonatal seizures 10.1 SCN1B SCN1A
10 sturge-weber syndrome 10.1 SCN1A GABRG2
11 long qt syndrome 3 10.0 SCN1B SCN1A
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 adolescence-adult electroclinical syndrome 10.0 SCN1B SCN1A GABRG2
17 electroclinical syndrome 10.0 SCN1B SCN1A GABRG2
18 photosensitive epilepsy 10.0 SCN1B SCN1A GABRG2
19 childhood electroclinical syndrome 10.0 SCN1B SCN1A GABRG2
20 benign familial neonatal epilepsy 10.0 SCN1B SCN1A GABRG2
21 neonatal period electroclinical syndrome 10.0 SCN1B SCN1A GABRG2
22 unverricht-lundborg syndrome 10.0 SCN1B SCN1A GABRG2
23 benign familial infantile epilepsy 10.0 SCN1B SCN1A GABRG2
24 paroxysmal extreme pain disorder 10.0 SCN1B SCN1A
25 lennox-gastaut syndrome 10.0 SCN1B SCN1A GABRG2
26 autosomal dominant nocturnal frontal lobe epilepsy 10.0 SCN1B SCN1A GABRG2
27 early myoclonic encephalopathy 10.0 SCN1B SCN1A GABRG2
28 epilepsy, myoclonic juvenile 10.0 SCN1B SCN1A GABRG2
29 dravet syndrome 9.9 SCN1B SCN1A GABRG2
30 generalized epilepsy with febrile seizures plus, type 4 9.9 TSPYL4 TBC1D22A
31 epilepsy, idiopathic generalized 9.9 SCN1B SCN1A GABRG2
32 paramyotonia congenita of von eulenburg 9.9 SCN1B SCN1A
33 epilepsy, familial temporal lobe, 1 9.9 SCN1B GABRG2
34 childhood absence epilepsy 9.9 SCN1B SCN1A GABRG2
35 benign epilepsy with centrotemporal spikes 9.9 SCN1B SCN1A GABRG2
36 west syndrome 9.9 SCN1B SCN1A GABRG2
37 febrile seizures, familial, 11 9.9 TBC1D22A SCN1A GABRG2
38 febrile seizures 9.8 SCN1B SCN1A IMPA2 GABRG2
39 seizure disorder 9.8 SCN1B SCN1A GABRG2
40 corneal dystrophy, band-shaped 9.8 SLC4A8 SLC4A7
41 complex partial epilepsy 9.8 SLC4A8 SLC4A7
42 corneal dystrophy and perceptive deafness 9.8 SLC4A8 SLC4A7
43 febrile seizures, familial, 2 9.8 SCN1B SCN1A PNRC1 GABRG2
44 usher syndrome, type iic 9.7 SLC4A8 SLC4A7
45 generalized epilepsy with febrile seizures plus 9.7 TSPYL4 SCN1B SCN1A GABRG2
46 epilepsy, familial temporal lobe, 5 9.7 TBC1D22A SCN1B SCN1A GABRG2
47 generalized epilepsy with febrile seizures plus, type 2 9.7 TBC1D22A SCN1B SCN1A GABRG2
48 febrile seizures, familial, 1 9.7 TBC1D22A SCN1B SCN1A GABRG2
49 febrile seizures, familial, 4 9.7 TBC1D22A SCN1B SCN1A GABRG2
50 generalized epilepsy with febrile seizures plus, type 7 9.7 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®:

57 (Updated 05-Mar-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®:

609253 (Updated 05-Mar-2021)

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. 57
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 intercalated disc GO:0014704 9.32 SCN1B SCN1A
2 T-tubule GO:0030315 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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.67 SCN1B SCN1A GABRG2
2 ion transport GO:0006811 9.55 SLC4A8 SLC4A7 SCN1B SCN1A GABRG2
3 regulation of membrane potential GO:0042391 9.5 SLC4A8 SCN1A GABRG2
4 bicarbonate transport GO:0015701 9.48 SLC4A8 SLC4A7
5 regulation of intracellular pH GO:0051453 9.46 SLC4A8 SLC4A7
6 anion transport GO:0006820 9.43 SLC4A8 SLC4A7
7 ion homeostasis GO:0050801 9.4 SLC4A8 SLC4A7
8 cardiac muscle cell action potential involved in contraction GO:0086002 9.37 SCN1B SCN1A
9 neuronal action potential propagation GO:0019227 9.26 SCN1B SCN1A
10 sodium ion transport GO:0006814 9.26 SLC4A8 SLC4A7 SCN1B SCN1A
11 sodium ion transmembrane transport GO:0035725 8.92 SLC4A8 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 9.32 SCN1B SCN1A
2 voltage-gated sodium channel activity GO:0005248 9.26 SCN1B SCN1A
3 anion transmembrane transporter activity GO:0008509 9.16 SLC4A8 SLC4A7
4 inorganic anion exchanger activity GO:0005452 8.96 SLC4A8 SLC4A7
5 sodium:bicarbonate symporter activity GO:0008510 8.62 SLC4A8 SLC4A7

Sources for Febrile Seizures, Familial, 6

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
Content
Loading form....