Are c.436G>A mutations less severe forms of Lafora disease? A case report

Are c.436G>A mutations less severe forms of Lafora disease? A case report

Lafora disease is a form of progressive myoclonic epilepsy with autosomal recessive transmission. Two genes have been identified so far: EPM2A and NHLRC1, and a third gene, concerning a pediatric onset subform, has been recently proposed. We report the case of a 23-year-old woman of Turkish origin w...

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Bibliographic Details
Main Authors: Hélène-Marie Lanoiselée, Pierre Genton, Gaetan Lesca, Florence Brault, Bertrand De Toffol
Format: Article
Language:English
Published: Elsevier 2014-01-01
Series:Epilepsy and Behavior Case Reports
Subjects:
Lafora disease
Progressive myoclonic epilepsy
EPM2A
EPM2B
NHLRC1
Online Access:http://www.sciencedirect.com/science/article/pii/S2213323213000467

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