title: Genetic basis of autosomal dominant nocturnal frontal lobe epilepsy.
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 alpha4 subunit of acetylcholine receptor were described in multi-generation families in Australia, Spain, Norway and Japan. Two other types of mutations of the beta2 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.
authors.affiliation: Department of Biochemistry and Molecular Biology, K. Marcinkowski University of Medical Sciences, ul. Swiecickiego 6, 60-781 Pozná, Poland.
authors.forename: Agata
authors.initials: A
authors.lastname: Rózycka
authors.forename: Wiesław H
authors.initials: WH
authors.lastname: Trzeciak
mesh_terms: D017034:Epilepsy, Frontal Lobe / Q000235:genetics*; D005192:Family Health; D005625:Frontal Lobe / Q000473:pathology*; D005799:Genes, Dominant; D006801:Humans; D007477:Ions; D008024:Ligands; D008954:Models, Biological; D008957:Models, Genetic; D009154:Mutation; D009474:Neurons / Q000378:metabolism*; D011950:Receptors, Cholinergic / Q000737:chemistry / Q000235:genetics* / Q000502:physiology; D011978:Receptors, Nicotinic / Q000235:genetics
chemical_list: D007477:Ions; D008024:Ligands; D011950:Receptors, Cholinergic; D011978:Receptors, Nicotinic