ملخص
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.
اللغة الأصلية | English |
---|---|
الصفحات (من إلى) | 133-135 |
عدد الصفحات | 3 |
دورية | International Journal of Nutrition, Pharmacology, Neurological Diseases |
مستوى الصوت | 6 |
رقم الإصدار | 3 |
المعرِّفات الرقمية للأشياء | |
حالة النشر | Published - يوليو 1 2016 |
ASJC Scopus subject areas
- ???subjectarea.asjc.2700.2728???
- ???subjectarea.asjc.2700.2736???
- ???subjectarea.asjc.2900.2916???