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.
|Number of pages||3|
|Journal||International Journal of Nutrition, Pharmacology, Neurological Diseases|
|Publication status||Published - 01-07-2016|
All Science Journal Classification (ASJC) codes
- Nutrition and Dietetics
- Clinical Neurology
- Pharmacology (medical)