Article
Three patients with lafora disease: different clinical presentations and a novel mutation.
Journal of child neurology - 1 May 2015
Poyrazoğlu Hatice Gamze, Karaca Emin, Per Hüseyin, Gümüs Hakan, Onay Huseyin, Canpolat Mehmet, Canöz Özlem, Ozkınay Ferda, Kumandas Sefer
Abstract excerpt
Lafora disease is a rare, fatal, autosomal recessive hereditary disease characterized by epilepsy, myoclonus and progressive neurological deterioration. Diagnosis is made by polyglucosan inclusion bodies (Lafora bodies) shown in skin biopsy. Responsible mutations of Lafora disease involves either the EPM2A or NHLRC1 (EPM2B) gene. Mutations in the NHLRC1 gene are described as having a more benign clinical course...
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