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Symbol
Name
ID
Epm2a
epilepsy, progressive myoclonic epilepsy, type 2 gene alpha
MGI:1341085
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Apraxia
Dementia
Progressive neurologic deterioration
Gait disturbance
Myoclonus
Visual hallucinations
Psychosis
Simple partial occipital seizures
Visual auras
Absence seizure
Generalized myoclonic seizures
Generalized tonic-clonic seizures
Generalized tonic-clonic seizures with focal onset
Disease(s) Associated with EPM2A
Lafora disease

Mouse Phenotypes
myoclonus
increased neuron apoptosis
hippocampal neuron degeneration
Purkinje cell degeneration
Lafora bodies
axon degeneration
abnormal brain wave pattern
Availability Mouse Genotype
Epm2atm1Kzy/Epm2atm1Kzy

Contributing Projects:
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
08/06/2019
MGI 6.14
The Jackson Laboratory