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- W2460386819 abstract "A 19-year adolescent presented to a specialist hospital with a 5-year history of Lafora disease (LD) or progressive myoclonic epilepsy. LD (EPM2) resulting from a homozygous missense mutation in EPM2B (NHLRC1) was confirmed. Symptomatic management was done using conventional anti- epileptics and anti-myoclonics. Understanding the nature of prenatal screening and genetic alliance are an important for advocating genetic testing and genetic counseling. This framework is necessary for a transdisciplinary, preventive genetic services, and likely gene therapy." @default.
- W2460386819 created "2016-07-22" @default.
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- W2460386819 date "2016-01-01" @default.
- W2460386819 modified "2023-09-27" @default.
- W2460386819 title "Need for interprofessional collaborative practice: Lafora disease" @default.
- W2460386819 doi "https://doi.org/10.4103/2231-0738.184596" @default.
- W2460386819 hasPublicationYear "2016" @default.
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