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epilepsy, familial focal, with variable foci 1
Disease Summary
Associated Targets (3)
Tbio
3
Mondo Description Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the DEPDC5 gene.
Uniprot Description An autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions in different family members. Many patients have an aura and show automatisms during the seizures, whereas others may have nocturnal seizures. There is often secondary generalization. Some patients show abnormal interictal EEG, and some patients may have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. Penetrance of the disorder is incomplete.
Mondo Term and Equivalent IDs
MONDO:0024556: epilepsy, familial focal, with variable foci 1
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
NCIT:C161005
OMIM:604364
UMLS:C1858477
MONDO:0024556
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