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...
| Main Authors: | , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
Elsevier
2014
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4307960/ |