FEB6
MCID: FBR074
MIFTS: 16

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

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
febrile seizures, familial, 6:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course childhood onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0111309
MedGen 42 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 feb6, is related to familial febrile seizures. An important gene associated with Febrile Seizures, Familial, 6 is FEB6 (Febrile Convulsions 6). Related phenotypes are generalized tonic-clonic seizures and generalized tonic seizures

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:

# Related Disease Score Top Affiliating Genes
1 familial febrile seizures 11.3

Symptoms & Phenotypes for Febrile Seizures, Familial, 6

Human phenotypes related to Febrile Seizures, Familial, 6:

32
# Description HPO Frequency HPO Source Accession
1 generalized tonic-clonic seizures 32 HP:0002069
2 generalized tonic seizures 32 HP:0010818
3 febrile seizures 32 HP:0002373
4 atonic seizures 32 HP:0010819

Symptoms via clinical synopsis from OMIM:

57
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

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. 8
15557493 2004
2
FeB6 Monolayers: The Graphene-like Material with Hypercoordinate Transition Metal. 38
27035286 2016
3
Molecular genetics of febrile seizures. 38
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

GO Terms for Febrile Seizures, Familial, 6

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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