Anderson, E and Berkovic, S and Dulac, O and Gardiner, M and Jain, S and Friis, ML and Lindhout, D and Noebels, J and Ottman, R and Scaramelli, A and Serratosa, J and Steinlein, O and Avanzini, G and Bailey-Wilson, J and Cardon, L and Fischbach, R and Gwinn-Hardy, K and Leppert, M and Ott, J and Lindblad-Toh, K and Weiss, K (2002) ILEA Genetics Commission conference report: molecular analysis of complex genetic epilepsies. Epilepsia , 43 (10) 1262 - 1267. 10.1046/j.1528-1157.2002.29502.x.
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Epilepsy is a diagnosis encompassing >40 clinical syndromes consisting of biochemical, anatomic, and physiologic changes that lead to recurrent seizures. Abundant evidence of a genetic contribution to the epilepsies derives from a variety of sources, including familial aggregation studies; twin studies; linkage, association, and gene identification studies in human epilepsies; and studies of human mendelian disorders with seizures as part of the phenotype (1,2).Most gene discoveries over the last 6-year period have been confined to epilepsies showing single-gene inheritance. These genes were mapped in relatively uncommon large pedigrees and subsequently identified by positional cloning or the positional candidate approach (3). Although there are undoubtedly more monogenic epilepsies to discover, many occur in pedigrees too small or few in number to allow successful gene localization. In addition, a large number of seizure disorders reflect complex inheritance, involving multiple, possibly interacting genes, with or without additional environmental influences.
|Title:||ILEA Genetics Commission conference report: molecular analysis of complex genetic epilepsies|
|Additional information:||Imported via OAI, 16:54:26 4th May 2005|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Child Health|
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