GEFSP1
MCID: GNR038
MIFTS: 42
|
Generalized Epilepsy with Febrile Seizures Plus, Type 1 (GEFSP1)
Categories:
Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
|
|
MalaCards integrated aliases for Generalized Epilepsy with Febrile Seizures Plus, Type 1:
Characteristics:OMIM:56
Miscellaneous:
incomplete penetrance highly variable phenotype onset of febrile seizures typically between 6 months and 6 years of age persistence of febrile seizures beyond age 6 years development of afebrile seizures later in childhood
Inheritance:
autosomal dominant HPO:31
generalized epilepsy with febrile seizures plus, type 1:
Inheritance autosomal dominant inheritance Onset and clinical course incomplete penetrance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Eye diseases |
OMIM :
56
Scheffer and Berkovic (1997) and Singh et al. (1999) described a clinical subset of febrile seizures, termed 'generalized epilepsy with febrile seizures plus' (GEFS+). Classic febrile seizures (see, e.g., FEB1, 121210) affect approximately 3% of children under 6 years of age and are by far the most common seizure disorder; classic febrile seizures typically spontaneously remit by age 6 years. GEFS+ occurs in a small proportion of children with febrile seizures who either have febrile seizures extending beyond age 6 years or develop epilepsy with afebrile seizures. Patients with GEFS+ express a highly variable phenotype combining febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, absence seizures, partial seizures, myoclonic seizures, or atonic seizures, with a variable degree of severity (summary by Wallace et al., 1998).
Deprez et al. (2009) reviewed the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm.
(604233)
MalaCards based summary : Generalized Epilepsy with Febrile Seizures Plus, Type 1, also known as epilepsy, generalized, with febrile seizures plus, type 1, is related to febrile seizures and visual epilepsy, and has symptoms including absence seizures An important gene associated with Generalized Epilepsy with Febrile Seizures Plus, Type 1 is SCN1B (Sodium Voltage-Gated Channel Beta Subunit 1), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Developmental Biology. Affiliated tissues include skeletal muscle and temporal lobe, and related phenotypes are atonic seizure and bilateral tonic-clonic seizure Disease Ontology : 12 A generalized epilepsy with febrile seizures plus that has material basis in heterozygous mutation in SCN1B on chromosome 19q13.11. UniProtKB/Swiss-Prot : 73 Generalized epilepsy with febrile seizures plus 1: A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. |
Human phenotypes related to Generalized Epilepsy with Febrile Seizures Plus, Type 1:31
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:604233UMLS symptoms related to Generalized Epilepsy with Febrile Seizures Plus, Type 1:absence seizures |
|
MalaCards organs/tissues related to Generalized Epilepsy with Febrile Seizures Plus, Type 1:40
Skeletal Muscle,
Temporal Lobe
|
Articles related to Generalized Epilepsy with Febrile Seizures Plus, Type 1:(show all 18)
|
ClinVar genetic disease variations for Generalized Epilepsy with Febrile Seizures Plus, Type 1:6 (show top 50) (show all 79)
UniProtKB/Swiss-Prot genetic disease variations for Generalized Epilepsy with Febrile Seizures Plus, Type 1:73
|
Search
GEO
for disease gene expression data for Generalized Epilepsy with Febrile Seizures Plus, Type 1.
|
Pathways related to Generalized Epilepsy with Febrile Seizures Plus, Type 1 according to GeneCards Suite gene sharing:
|
Cellular components related to Generalized Epilepsy with Febrile Seizures Plus, Type 1 according to GeneCards Suite gene sharing:
Biological processes related to Generalized Epilepsy with Febrile Seizures Plus, Type 1 according to GeneCards Suite gene sharing:(show all 15)
Molecular functions related to Generalized Epilepsy with Febrile Seizures Plus, Type 1 according to GeneCards Suite gene sharing:
|
|