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CASE REPORT
Year : 2016  |  Volume : 6  |  Issue : 3  |  Page : 133-135

Need for interprofessional collaborative practice: Lafora disease


Department of Adult Health and Critical Care, College of Nursing, Sultan Qaboos University, Muscat, Sultanate of Oman

Correspondence Address:
Dr. Melba Sheila D'Souza
College of Nursing, Sultan Qaboos University, P. O. Box: 66, Muscat
Sultanate of Oman
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2231-0738.184596

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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.


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