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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Detalles Bibliográficos
Autores principales: Lanoiselée, Hélène-Marie, Genton, Pierre, Lesca, Gaetan, Brault, Florence, De Toffol, Bertrand
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4307960/
https://www.ncbi.nlm.nih.gov/pubmed/25667860
http://dx.doi.org/10.1016/j.ebcr.2013.11.003

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4307960/
https://www.ncbi.nlm.nih.gov/pubmed/25667860
http://dx.doi.org/10.1016/j.ebcr.2013.11.003

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