Need for interprofessional collaborative practice: Lafora disease

Melba Sheila D'Souza; Anandhi Amirthraj

doi:10.4103/2231-0738.184596

Need for interprofessional collaborative practice: Lafora disease

Melba Sheila D'Souza^*, Anandhi Amirthraj

^*Corresponding author for this work

Adult Health & Critical

Research output: Contribution to journal › Review article › peer-review

1 Citation (Scopus)

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 language	English
Pages (from-to)	133-135
Number of pages	3
Journal	International Journal of Nutrition, Pharmacology, Neurological Diseases
Volume	6
Issue number	3
DOIs	https://doi.org/10.4103/2231-0738.184596
Publication status	Published - Jul 1 2016

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

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title = "Need for interprofessional collaborative practice: Lafora disease",

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.",

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AU - Amirthraj, Anandhi

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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.

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KW - Prenatal screening

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Need for interprofessional collaborative practice: Lafora disease

Abstract

Keywords

ASJC Scopus subject areas

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