FEB1
MCID: FBR073
MIFTS: 20

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
Convulsions, Familial Febrile, 1 57
Feb1 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
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
genetic heterogeneity


HPO:

32
febrile seizures, familial, 1:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course childhood onset


Classifications:



External Ids:

OMIM 57 121210
MedGen 42 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)

MalaCards based summary : Febrile Seizures, Familial, 1, also known as convulsions, familial febrile, 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). Related phenotypes are generalized tonic-clonic seizures and febrile seizures

Related Diseases for Febrile Seizures, Familial, 1

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

Symptoms via clinical synopsis from OMIM:

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

Clinical features from OMIM:

121210

Human phenotypes related to Febrile Seizures, Familial, 1:

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

Drugs & Therapeutics for Febrile Seizures, Familial, 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Influence of High Heeled Shoes on the Sagittal Balance of the Spine and Whole Body Completed NCT02254694 Not Applicable
2 Low-Flow CO2 Removal for Mild to Moderate ARDS With PRISMALUNG Completed NCT02606240

Search 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

Publications for Febrile Seizures, Familial, 1

Variations for Febrile Seizures, Familial, 1

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ADGRV1 NM_032119.3(ADGRV1): c.1093G> T (p.Asp365Tyr) single nucleotide variant Likely pathogenic rs372147148 GRCh37 Chromosome 5, 89923448: 89923448
2 ADGRV1 NM_032119.3(ADGRV1): c.1093G> T (p.Asp365Tyr) single nucleotide variant Likely pathogenic rs372147148 GRCh38 Chromosome 5, 90627631: 90627631

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

Sources for Febrile Seizures, Familial, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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37 KEGG
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40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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