Journal of Applied Genetics 44(2), 2003, pp. 197-207
Genetic basis of autosomal dominant nocturnal frontal lobe epilepsy
Agata ROZYCKA, Wieslaw H. TRZECIAK
Abstract: In this review the current literature regarding autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is presented and discussed. This disease is caused by mutations of genes coding for subunits of neuronal acetylcholine receptor comprising the sodium/potassium ion channel. To date, three types of mutations of the gene encoding ?4 subunit of acetylcholine receptor were described in multi-generation families in Australia, Spain, Norway and Japan. Two other types of mutations of the ß2 subunit were also reported in two families, one from Italy and the other from Scotland. Mutations were caused by substitutions of a single nucleotide or by several-nucleotide insertions and result in a decrease or an increase in the activity of the receptor, or its changes in the affinity to the ligand. Recent advances in molecular genetics have provided the means for a better understanding of human epileptogenesis at a molecular level, which facilitates clinical diagnosis and provides a more rational basis of therapy of this form of epilepsy.
Key words: sodium-potassium channel, neuronal nicotinic acetylcholine receptor, nocturnal frontal lobe epilepsy.
Correspondence: W.H. TRZECIAK, Department of Biochemistry and Molecular Biology, K. Marcinkowski University of Medical Sciences, ul. Swiecickiego 6, 60-781 Poznan, Poland, e-mail: firstname.lastname@example.org
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