Genetics of the epilepsies.
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.
Scheffer
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IE
Department of Medicine (Neurology), The University of Melbourne, Epilepsy Research Institute, Austin and Repatriation Medical Centre, Australia. scheffer@austin.unimelb.edu.au
Berkovic
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SF
D004827:Epilepsy / Q000235:genetics*; D006801:Humans