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pro vyhledávání: '"Gentzane eSánchez-Elexpuru"'
Enhanced sensitivity of laforin- and malin-deficient mice to the convulsant agent pentylenetetrazole
Publikováno v:
Frontiers in Neuroscience, Vol 8 (2014)
Lafora disease is a rare form of inherited progressive myoclonus epilepsy caused by mutations in the EPM2A gene encoding laforin, or in the EPM2B gene, which encodes malin. It is characterized by the presence of polyglucosan inclusion bodies (Lafora
Externí odkaz:
https://doaj.org/article/f4d2373a53964868b7f1a28591bfa320
