TY - JOUR
T1 - Need for interprofessional collaborative practice
T2 - Lafora disease
AU - D'Souza, Melba Sheila
AU - Amirthraj, Anandhi
N1 - Publisher Copyright:
© 2016 International Journal of Nutrition, Pharmacology, Neurological Diseases | Published by Wolters Kluwer - Medknow.
PY - 2016/7/1
Y1 - 2016/7/1
N2 - 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.
AB - 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.
UR - https://www.scopus.com/pages/publications/84977624884
UR - https://www.scopus.com/pages/publications/84977624884#tab=citedBy
U2 - 10.4103/2231-0738.184596
DO - 10.4103/2231-0738.184596
M3 - Review article
AN - SCOPUS:84977624884
SN - 2231-0738
VL - 6
SP - 133
EP - 135
JO - International Journal of Nutrition, Pharmacology, Neurological Diseases
JF - International Journal of Nutrition, Pharmacology, Neurological Diseases
IS - 3
ER -