Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/13593
Title: Epilepsy genes and the genetics of epilepsy syndromes: the promise of new therapies based on genetic knowledge.
Authors: Berkovic, Samuel F
Affiliation: Department of Medicine (Neurology), University of Melbourne, Austin and Repatriation Medical Centre, Victoria, Australia.
Issue Date: 16-May-1997
Citation: Epilepsia; 38 Suppl 9(): S32-6
Abstract: Treatment strategies based on the molecular biology of the epilepsies may soon become a reality. Critical steps in this process are identifying molecular genetic defects in specific epilepsies, understanding of the neurobiologic consequences of those defects, and developing methods to correct the molecular defects or their downstream consequences. Identification of molecular defects is easier in single-gene epilepsies than in those with complex inheritance, although the latter are more common. A number of epilepsies have been mapped and, in two cases, specific genes have been identified. Unverricht-Lundborg disease is caused by defects in the cystatin B gene, with absence of the gene product. Autosomal dominant nocturnal frontal lobe epilepsy in some families is caused by mutations in the alpha4-subunit of the nicotinic acetylcholine receptor gene. In vitro studies suggest that the mutations lead to impaired function of the acetylcholine receptor, raising the possibility of cholinergic therapy for this condition. Advances in the molecular biology of the epilepsies are likely to change our understanding radically and to allow opportunities to develop innovative new treatments for epilepsy.
Internal ID Number: 9578543
URI: http://ahro.austin.org.au/austinjspui/handle/1/13593
URL: http://www.ncbi.nlm.nih.gov/pubmed/9578543
Type: Journal Article
Subjects: Animals
Cystatin B
Cystatins.genetics.metabolism
Cysteine Proteinase Inhibitors.genetics.metabolism
Disease Models, Animal
Epilepsies, Myoclonic.genetics.metabolism
Epilepsy.genetics.metabolism.therapy
Epilepsy, Frontal Lobe.genetics.metabolism
Family
Gene Expression
Genes, Dominant.genetics
Genetic Linkage
Genetic Therapy
Genotype
Humans
Mice
Mice, Knockout
Molecular Biology
Mutation
Phenotype
Receptors, Cholinergic.genetics.metabolism
Syndrome
Appears in Collections:Journal articles

Files in This Item:
There are no files associated with this item.


Items in AHRO are protected by copyright, with all rights reserved, unless otherwise indicated.