Symbol
| EPM2A
| contributors: mct - updated : 23-07-2015
|
HGNC name
| epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
|
HGNC id
| 3413
|
corresponding disease(s)
|
EPM2A
|
Variant & Polymorphism
|
| |
Candidate gene
Marker
Therapy target
|
System | Type | Disorder | Pubmed |
neurology | neurodegenerative | | |
could be with NHLRC1 potential therapeutic targets for neurodegenerative disorders associated with cytotoxic proteins |
| | | |
| mice lacking laforin (epm2a-/-) have enhanced insulin response leading to altered whole-body energy balance |