[Familial nocturnal frontal lobe epilepsy. Clinical aspects and genetics].
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a disease entity that has only recently been discovered. Its clinical variability and the frequently missed EEG features are probably some of the reasons why this disease is often overlooked or misdiagnosed. In a large Australian pedigree, a link was found between ADNFLE and polymorphic markers on chromosome 22q13.2-q13.3. Mutation analysis identified a mis-sense mutation in the gene coding for the alpha 4 subunit of the neuronal nicotinic acetylcholine receptor. The mutation was found in all affected family members. Thus, for the first time a likely relationship between an idiopathic epilepsy and a specific gene has been found. Additional studies will be needed to clarify the underlying pathologic mechanism. Furthermore, the hypothesis that other members of this multigene family are involved in epileptic diseases appears attractive.
Steinlein
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Institut für Humangenetik, Universität, Bonn.
D000293:Adolescent; D000328:Adult; D000368:Aged; D001315:Australia; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002892:Chromosomes, Human, Pair 22; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D004569:Electroencephalography; D017034:Epilepsy, Frontal Lobe / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011978:Receptors, Nicotinic / Q000235:genetics; D012893:Sleep Wake Disorders / Q000175:diagnosis / Q000235:genetics*
D005819:Genetic Markers; D011978:Receptors, Nicotinic