Need for interprofessional collaborative practice

Lafora disease

Melba Sheila D'Souza, Anandhi Amirthraj

Research output: Contribution to journalReview article

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.

Original languageEnglish
Pages (from-to)133-135
Number of pages3
JournalInternational Journal of Nutrition, Pharmacology, Neurological Diseases
Volume6
Issue number3
DOIs
Publication statusPublished - Jul 1 2016

Fingerprint

Lafora Disease
Progressive Myoclonic Epilepsy
Genetic Services
Genetic Counseling
Genetic Testing
Missense Mutation
Prenatal Diagnosis
Genetic Therapy

Keywords

  • EPM2B
  • Genetic alliance
  • Genetic counseling
  • Genetic testing
  • Lafora disease
  • Prenatal screening
  • Progressive myoclonic epilepsy

ASJC Scopus subject areas

  • Clinical Neurology
  • Pharmacology (medical)
  • Nutrition and Dietetics

Cite this

Need for interprofessional collaborative practice : Lafora disease. / D'Souza, Melba Sheila; Amirthraj, Anandhi.

In: International Journal of Nutrition, Pharmacology, Neurological Diseases, Vol. 6, No. 3, 01.07.2016, p. 133-135.

Research output: Contribution to journalReview article

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