Lafora disease, seizures and sugars.

Abstract

Lafora disease (LD) is the most severe form of Progressive Myoclonus Epilepsy with teenage onset. It has an autosomal recessive mode of inheritance and is almost universally fatal by the second or third decade of life. To date, there is no prevention or cure. In the last decade, with the identification of the genes responsible for this disease, much knowledge has been gained with the potential for the future development of effective treatment. This review will briefly address clinical issues and will focus on the molecular aspects of the disease.

• Authors: D M Andrade, J Turnbull, B A Minassian
• Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology (Acta Myol) Vol. 26 Issue 1 Pg. 83-6 (Jul 2007) ISSN: 1128-2460 [Print] Italy
• PMID: 17915579 (Publication Type: Journal Article, Review)

Chemical References

• EMP2 protein, human
• Membrane Glycoproteins

Topics

• Adolescent
• Age of Onset
• Child
• Genotype
• Humans
• Lafora Disease (genetics, metabolism, pathology, physiopathology)
• Membrane Glycoproteins (genetics)
• Phenotype