Article
Lafora progressive Myoclonus Epilepsy mutation database-EPM2A and NHLRC1 (EPM2B) genes.
Human mutation - 1 Oct 2005
Ianzano Leonarda, Zhang Junjun, Chan Elayne M, Zhao Xiao-Chu, Lohi Hannes, Scherer Stephen W, Minassian Berge A
Abstract excerpt
Progressive Myoclonus Epilepsy (PME) of the Lafora type is an autosomal recessive disease, which presents in teenage years with myoclonia and generalized seizures leading to death within a decade of onset. It is characterized by pathognomonic inclusions, Lafora bodies (LB), in neurons and other cell types. Two genes causing Lafora disease (LD), EPM2A on chromosome 6q24 and NHLRC1 (EPM2B) on chromosome 6p22.3 have...
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