Autosomal dominant nocturnal frontal lobe epilepsy--a critical overview.
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an idiopathic epilepsy, with a spectrum of clinical manifestations, ranging from brief, stereotyped, sudden arousals to more complex dystonic-dyskinetic seizures. Video-polysomnography allows a correct differential diagnosis. There is no difference between sporadic nocturnal frontal lobe epilepsy (NFLE) and ADNFLE in the clinical and neurophysiological findings. ADNFLE is the first idiopathic epilepsy for which a genetic basis has been identified. Mutations have been found in two genes (CHRNA4 and CHRNB2) coding for neuronal nicotinic receptor subunits (alpha4 and beta2, respectively). Contrasting data have been reported on the effect of these mutations on the functionality of the receptor.Moreover, the incomplete data on the neuronal network/s in which this receptor is involved, make difficult the understanding of the genotype-phenotype correlation. This is an overview on the clinical and genetic aspects of ADNFLE including a discussion of some open questions on the role of the neuronal nicotinic receptor subunit mutations in the pathogenesis of this form of epilepsy.
Combi
Romina
R
Department of Biology and Genetics for, Medical Sciences University of Milan, Via Viotti 3/5, 20133, Milan, Italy.
Dalprà
Leda
L
Tenchini
Maria Luisa
ML
Ferini-Strambi
Luigi
L
D000086:Acetazolamide / Q000627:therapeutic use; D000818:Animals; D000927:Anticonvulsants / Q000627:therapeutic use; D003937:Diagnosis, Differential; D004569:Electroencephalography / Q000379:methods; D017034:Epilepsy, Frontal Lobe / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology*; D005799:Genes, Dominant; D006801:Humans; D008959:Models, Neurological; D009154:Mutation; D020189:Nocturnal Myoclonus Syndrome / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology*; D011978:Receptors, Nicotinic / Q000235:genetics
D000086:Acetazolamide; D000927:Anticonvulsants; D011978:Receptors, Nicotinic