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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2014
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| Materias: | |
| 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 |