01
CACNB4
calcium voltage-gated channel auxiliary subunit beta 4
calcium voltage-gated channel auxiliary subunit beta 4
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Myoclonic Epilepsy, Juvenile
- Standard Disease Name
- myoclonic epilepsy, juvenile
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- D020190
- OMIM ID
- 254770
- UMLS ID
- C0270853
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:An epilepsy characterized by myoclonic jerks, generalized tonic-clonic seizures, and sometimes absence seizures. It appears during adolescence.|MSH2017_2016_08_12:A disorder characterized by the onset of myoclonus in adolescence, a marked increase in the incidence of absence seizures (see EPILEPSY, ABSENCE), and generalized major motor seizures (see EPILEPSY, TONIC-CLONIC). The myoclonic episodes tend to occur shortly after awakening. Seizures tend to be aggravated by sleep deprivation and alcohol consumption. Hereditary and sporadic forms have been identified. (From Adams et al., Principles of Neurology, 6th ed, p323)
Related
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Related Targets
target disease8 Targets