[Molecular and genetic basis of idiopathic nocturnal frontal lobe epilepsy].
In this review current literature on autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is presented and discussed. This disease is caused by mutations of genes coding for sub-units of neuronal acetylcholine receptor comprising sodium/potassium ion channel. To date, three types of mutations of the gene encoding alpha 4 sub-unit of acetylcholine receptor were described in multigeneration families in Australia, Spain, Norway and Japan, as well as two types of mutations of the beta 2 sub-unit in two families, one from Italy and the other from Scotland. Mutations were caused by substitutions of a single nucleotide or several nucleotide insertions and resulted in lowering of the activity of the receptor or changes in the affinity to the ligand. Recent advances in molecular genetics have provided the means for better understanding of human epileptogenesis at molecular level, which facilitates clinical diagnosis, provides more rational basis of therapy and prevention of this form of epilepsy.
Skorupska
Elzbieta
E
Katedry i Zakładu Biochemii i Biologii Molekularnej Akademii Medycznej w Poznaniu.
Rózycka
Agata
A
Trzeciak
Wiesław H
WH
D025063:Chromosome Disorders / Q000235:genetics; D017034:Epilepsy, Frontal Lobe / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D009419:Nerve Tissue Proteins / Q000235:genetics; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D015221:Potassium Channels / Q000235:genetics*; D011978:Receptors, Nicotinic / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics*
D009419:Nerve Tissue Proteins; D015221:Potassium Channels; D011978:Receptors, Nicotinic; D015222:Sodium Channels; C447158:CHRNA5 protein, human; C447159:CHRNB4 protein, human