FEB4
MCID: FBR069
MIFTS: 37
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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 (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 ) mutation in the mass1 gene has been identified in 1 of 48 families with familial febrile seizures linked to 5q14 HPO:31
febrile seizures, familial, 4:
Inheritance autosomal dominant inheritance heterogeneous Onset and clinical course infantile onset childhood onset Classifications: |
UniProtKB/Swiss-Prot :
73
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 seizure disorder and febrile seizures. An important gene associated with Febrile Seizures, Familial, 4 is ADGRV1 (Adhesion G Protein-Coupled Receptor V1), and among its related pathways/superpathways are Nicotine addiction and Interaction between L1 and Ankyrins. Related phenotypes are atonic seizure and bilateral tonic-clonic seizure Disease Ontology : 12 A familial febrile seizures that has material basis in heterozygous mutation ADGRV1 on chromosome 5q14.3. |
Human phenotypes related to Febrile Seizures, Familial, 4:31
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:604352 (Updated 05-Mar-2021) |
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Articles related to Febrile Seizures, Familial, 4:(show all 15)
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ClinVar genetic disease variations for Febrile Seizures, Familial, 4:6 (show all 38)
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Cellular components related to Febrile Seizures, Familial, 4 according to GeneCards Suite gene sharing:
Biological processes related to Febrile Seizures, Familial, 4 according to GeneCards Suite gene sharing:
Molecular functions related to Febrile Seizures, Familial, 4 according to GeneCards Suite gene sharing:
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