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Symbol Name ID |
Efhc1
EF-hand domain (C-terminal) containing 1 MGI:1919127 |
| Darker colors indicate more annotations |
| Human Phenotypes | Morning myoclonic jerks |
EEG with generalized polyspikes |
EEG with polyspike wave complexes |
EEG with spike-wave complexes (>3.5 Hz) |
Aggressive behavior |
Intellectual disability |
Bilateral tonic-clonic seizure |
Bilateral tonic-clonic seizure on awakening |
Photosensitive tonic-clonic seizure |
Generalized non-motor (absence) seizure |
Generalized-onset seizure |
Generalized myoclonic seizure |
Febrile seizure (within the age range of 3 months to 6 years) |
Myoclonic seizure |
Status epilepticus |
| Disease(s) Associated with EFHC1 | |||||||||||||||
| juvenile absence epilepsy 1 | |||||||||||||||
| juvenile myoclonic epilepsy |
| Mouse Phenotypes | increased susceptibility to pharmacologically induced seizures |
myoclonus |
abnormal brain ependyma motile cilium physiology |
enlarged brain ventricles |
small hippocampus |
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| Availability | Mouse Genotype | |||||
| Efhc1tm1Kzy/Efhc1tm1Kzy | ||||||
| Efhc1tm1Kzy/Efhc1+ | ||||||
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 05/21/2024 MGI 6.23 |
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