Search for the involvement of neuronal acetylcholine receptor genes in some idiopathic epilepsies

RAUSCHEMBERGER, M. B.; VECCHI, C.; BARRANTES, F. J.

Buenos Aires, Hotel Sheraton, 13 al 18 de Mayo de 2001

Congreso; 24 th International Epilepsy Congress; 2001

International Bureau for Epilepsy (IBE), International League Against Epilepsy (ILAE), Argentine League Against Epilepsy (LACE), Argetnine Bureau for Epilepsy (ALCE)

Recent advances in human genetics and in the neurobiology of neurotransmitters receptors and channels have led to the discovery of specific genes associated with hereditary epileptic phenotypes. Some clinically rare idiopathic epilepsies are associated  with gene defects in ligand-and voltege-gated ion channels. Mutatios hev been identified in genes coding for different neuronal nicotinic acetylcholine recpetor (AChR) subunits. Distinct a subunits are found in brain and in the peripheral nervous system, and structural, non - a subunits like b2 and b4 confer functional and pharmacological singularity to neuronal receptors. Thus, the propertiesof the oligomeric AChR depend on the different combinations of a and  b subunits. Initial studies linked mutations in the a4 chain, the most abundant subunit in the central nervous system, to human benign familial neonatal convulsions and autosomal dominant nocturnal frontal lobe epilepsy , and the a7 chain has more recently been associated with a form of Rolandic epilepsy (Neubauer et a., 1998). A line of research in our laboratory involves the screening of AChR gene markers in families with diagnosed epileptic phenotypes and the design of cellular models for in vitro studies.