Oxidative stress, a new hallmark in the pathophysiology of Lafora progressive myoclonus epilepsy.
Valencia, Spain. In Free Radic Biol Med, Mar 2015
UNASSIGNED: Lafora Disease (LD, OMIM 254780, ORPHA501) is a devastating neurodegenerative disorder characterized by the presence of glycogen-like intracellular inclusions called Lafora bodies and caused, in most cases, by mutations in either EPM2A or EPM2B genes, encoding respectively laforin, a phosphatase with dual specificity that is involved in the dephosphorylation of glycogen, and malin, an E3-ubiquitin ligase involved in the polyubiquitination of proteins related with glycogen metabolism.
Unclassified cardiomyopathies in neuromuscular disorders.
Vienna, Austria. In Wien Med Wochenschr, 2013
Takotsubo syndrome has been described in association with myasthenia gravis, amyotrophic lateral sclerosis, Guillain-Barre syndrome, rhabdomyolysis, mitochondrial disorder, hypokalemia-related myopathy, syndrome malin, hereditary sensorimotor neuropathy, Beals syndrome, polymyalgia rheumatica, and unclassified myopathy.
Progressive myoclonus epilepsy.
Toronto, Canada. In Handb Clin Neurol, 2012
It is caused by defects of two genes of yet unknown function, one encoding a glycogen phosphatase (laforin) and the other an ubiquitin E3 ligase (malin).
Expanded repeat in canine epilepsy.
Toronto, Canada. In Science, 2005
A canid-specific unstable dodecamer repeat in the Epm2b (Nhlrc1) gene recurrently expands, causing a fatal epilepsy and contributing to the high incidence of canine epilepsy.