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Genetics of the Epilepsies
Author(s) -
Berkovic Samuel F.,
Scheffer Ingrid E.
Publication year - 2001
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/j.1528-1167.2001.0s003.x
Subject(s) - epilepsy , mendelian inheritance , neuroscience , biology , sodium channel , gene , genetics , epilepsy syndromes , molecular genetics , familial hemiplegic migraine , medicine , chemistry , aura , migraine with aura , migraine , organic chemistry , sodium
Summary: 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 into 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.