KEGG   VARIANT: 7957v1
Entry
7957v1                      Variant                                
Name
EPM2A mutation
Type
Loss of function
Gene
EPM2A  EPM2A glucan phosphatase, laforin [KO:K14165]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607566
Network
nt06532  Autophagy
Disease
H00810  Progressive myoclonic epilepsy
Reference
PMID:30143794
  Authors
Nitschke F, Ahonen SJ, Nitschke S, Mitra S, Minassian BA
  Title
Lafora disease - from pathogenesis to treatment strategies.
  Journal
Nat Rev Neurol 14:606-617 (2018)
DOI:10.1038/s41582-018-0057-0
Reference
PMID:32087199
  Authors
Zatyka M, Sarkar S, Barrett T
  Title
Autophagy in Rare (NonLysosomal) Neurodegenerative Diseases.
  Journal
J Mol Biol 432:2735-2753 (2020)
DOI:10.1016/j.jmb.2020.02.012
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