Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/9275
Title: Genetics of the epilepsies.
Authors: Scheffer, Ingrid E;Berkovic, Samuel F
Affiliation: Department of Medicine (Neurology), The University of Melbourne, Epilepsy Research Institute, Austin and Repatriation Medical Centre, Australia. scheffer@austin.unimelb.edu.au
Issue Date: 1-Dec-2000
Citation: Current Opinion in Pediatrics; 12(6): 536-42
Abstract: Recent molecular insights into the human idiopathic epilepsies have suggested the central role of ligand-gated and voltage-gated ion channels in their etiology. So far, genes coding for sodium and potassium channel subunits as well as a nicotinic cholinergic receptor subunit have been identified for Mendelian idiopathic epilepsies. In vitro and in vivo studies of mutations demonstrate functional changes, allowing new insights in mechanisms underlying hyperexcitability. Similarly, spontaneous murine epilepsy models have been associated with calcium channel molecular defects. The major challenge before us in understanding the genetics of the epilepsies is to identify genes for common forms of epilepsy following complex inheritance. Once such genes are discovered, the gene-gene-environmental interactions producing specific epilepsy syndromes can be explored.
Internal ID Number: 11106271
URI: http://ahro.austin.org.au/austinjspui/handle/1/9275
URL: http://www.ncbi.nlm.nih.gov/pubmed/11106271
Type: Journal Article
Subjects: Epilepsy.genetics
Humans
Appears in Collections:Journal articles

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