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FEB4
MCID: FBR069
MIFTS: 27
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Febrile Seizures, Familial, 4 (FEB4)
Categories:
Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Febrile Seizures, Familial, 4:
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 ) mutation in the mass1 gene has been identified in 1 of 48 families with familial febrile seizures linked to 5q14 HPO:32
febrile seizures, familial, 4:
Inheritance autosomal dominant inheritance heterogeneous Onset and clinical course infantile onset childhood onset Classifications: |
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UniProtKB/Swiss-Prot
:
74
Febrile seizures, familial, 4: Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy.
MalaCards based summary : Febrile Seizures, Familial, 4, also known as feb4, is related to generalized epilepsy with febrile seizures plus and visual epilepsy. An important gene associated with Febrile Seizures, Familial, 4 is ADGRV1 (Adhesion G Protein-Coupled Receptor V1). Related phenotypes are generalized tonic-clonic seizures and generalized tonic seizures Disease Ontology : 12 A familial febrile seizures that has material basis in heterozygous mutation ADGRV1 on chromosome 5q14.3. |
Diseases in the Febrile Seizures family:Diseases related to Febrile Seizures, Familial, 4 via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Febrile Seizures, Familial, 4:
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Human phenotypes related to Febrile Seizures, Familial, 4:32
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:604352 |
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Articles related to Febrile Seizures, Familial, 4:(show all 15)
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Genes related to Febrile Seizures, Familial, 4 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Febrile Seizures, Familial, 4:6 (show all 38)
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Search
GEO
for disease gene expression data for Febrile Seizures, Familial, 4.
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