GenTIGSA Gene Database on Rare Genetic Disorders
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Lafora Disease  
Disease Aliases (31)

Epilepsy, progressive myoclonic, 2a

Epilepsy, progressive myoclonic, 2b

Epm2

Epm2a

Epm2a-related lafora disease

Epm2b

Epilepsy progressive myoclonic 2

Epilepsy progressive myoclonic 2

Epilepsy, progressive myoclonic 2a

Epilepsy, progressive myoclonic, lafora

Lafora body disease

Lafora disease

Lbd

Lafora body disease, late onset

Lafora body disorder

Lafora myoclonic epilepsy

Lafora progressive myoclonic epilepsy

Lafora progressive myoclonus epilepsy

Lafora type progressive myoclonic epilepsy

Lafora's disease

Lafora-body disease, late onset

Late onset lafora body disease

Melf

Myoclonic epilepsy of lafora

Nhlrc1-related lafora disease

Pme type 2

Progressive myoclonic epilepsy type 2

Progressive myoclonic epilepsy, lafora

Progressive myoclonic epilepsy, lafora type

Progressive myoclonus epilepsy, lafora type

Progressive myoclonus epilepsy type 2

Associated Genes (2)
 

NCBI-RefSeq:  NHLRC1   (NHL repeat containing E3 ubiquitin protein ligase 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  EPM2A   (EPM2A glucan phosphatase, laforin)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Lafora disease OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations