Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/10533
Title: Navigating the channels and beyond: unravelling the genetics of the epilepsies.
Authors: Helbig, Ingo;Scheffer, Ingrid E;Mulley, John C;Berkovic, Samuel F
Affiliation: Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Australia.
Issue Date: 1-Mar-2008
Citation: The Lancet. Neurology; 7(3): 231-45
Abstract: Genetic factors are now recognised to have an even more important role in epilepsies than previously appreciated. Rare mendelian forms of epilepsy are now well recognised, and there is evidence of complex inheritance due to multiple susceptibility genes in most idiopathic epilepsies. The complexities of epilepsy classification and the variety of clinical genetic methodologies (family aggregation, twin, and multiplex family studies) have led to an apparently confusing picture. Molecular approaches have revealed genes for many mendelian epilepsies. Most encode ion-channel subunits, but major challenges remain in understanding phenotype-genotype relationships. These challenges are even greater in complex epilepsies in which gene discovery is still in its infancy. In this Review, we synthesise clinical genetic data, discuss the strengths and weaknesses of different approaches, and integrate molecular findings about the epilepsies. This knowledge not only informs clinicians about the biology of the epilepsies but also has important consequences for clinical practice and genetic counselling.
Internal ID Number: 18275925
URI: http://ahro.austin.org.au/austinjspui/handle/1/10533
DOI: 10.1016/S1474-4422(08)70039-5
URL: http://www.ncbi.nlm.nih.gov/pubmed/18275925
Type: Journal Article
Subjects: Epilepsy.epidemiology.genetics.physiopathology
Family Health
Female
Humans
Ion Channels.genetics
Male
Appears in Collections:Journal articles

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