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Epilepsy, Idiopathic Generalized (EIG)
Alias:
Idiopathic Generalized Epilepsy
|
Epilepsy, Generalized
|
Eig
|
Ige
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Idiopathic generalized epilepsy encompasses various seizure types, including childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy, and epilepsy with grand mal seizures on awakening. These seizures occur without detectable brain lesions or metabolic abnormalities. The condition is believed to have a strong genetic basis and is considered a subgroup of Genetic Generalized Epilepsy. Patients typically have no structural brain abnormalities, a family history of epilepsy, and a genetically predisposed risk of seizures. Onset is usually in early childhood to adolescence, with some cases diagnosed later. Some types of IGE have known genetic causes, but inheritance is not always straightforward.
Related ID:
MALACARDS: EPL140
|
OMIM: 600669
Basic Information
Inheritance
Age of Onset
Prevalence
Related Genes
Related Mouse Models
Reference
MALACARDS
AD
Autosomal dominant
Unknown
--
891
6937
41
EPL140
Medical Symptom
Phenotype Information Associated with the Current Disease:
Categorization: Anatomical classification of the disease manifestations.
HPO Frequency/Orphanet Frequency: Indicates the probability of the manifestation occurring in the current disease, allowing sorting by probability.
HPO Source Accession: Links to HPO for detailed manifestation information.
Data Source: HPO, Orphanet
Gene & Mutation
Genes and Mutations Associated with the Current Disease:
Function: Primary biological roles of the genes.
Score: Indicates the strength of the association between the disease and the gene, with higher scores reflecting stronger associations.
Count: Number of mutations associated with the disease-gene pair. The number in parentheses represents the total data points linked to the same ClinVar ID. Clicking the number reveals mutation details.
Data Source: Clinvar
Related Drugs
Drugs Related to the Current Gene, Displaying CAS Number, Status and Phase.
Data Source: Clinical Trials
Related Mouse Models
Mouse Models Related to the Current Gene. Click on the model name to view detailed information.
Data Source: MGI, Cyagen
References Literature
Most Relevant Literature for the Current Gene, Filterable by Year, Article Type, and Sortable by Impact Factor.
Data Source: UniProt, PubMed
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