CHRNA2 mutations are rare in the NFLE population: evaluation of a large cohort of Italian patients.
OBJECTIVE
Forty-six nocturnal frontal lobe epilepsy (NFLE) patients (in which the involvement of the CHRNA4 and CHRNB2 genes coding for neuronal nicotinic acetylcholine receptor (nAChRs) subunits associated to the disease were previously excluded) were analyzed for the presence of mutations in the CHRNA2 gene coding for the alpha2 subunit of the same receptor, which has been recently associated with the disease.


METHODS
Mutational screening was performed by sequencing two polymerase chain reaction-amplified CHRNA2 DNA fragments, spanning the whole exon 6 and exon 7, respectively, which code for approximately 75% of the mature protein and contain all four transmembrane domains contributing to the ion pore.


RESULTS
No mutations were identified in the analyzed region of CHRNA2.


CONCLUSIONS
These data demonstrate the rarity of the identified CHRNA2 mutations in NFLE patients, supporting the recently reported hypothesis of a restricted role for this gene in the disease.
Combi
Romina
R
Department of Biotechnology and Biosciences, University of Milano-Bicocca, p.zza della Scienza 2, 20126 Milano, Italy. romina.combi@unimib.it
Ferini-Strambi
Luigi
L
Tenchini
Maria Luisa
ML
D000328:Adult; D002648:Child; D015331:Cohort Studies; D017034:Epilepsy, Frontal Lobe / Q000235:genetics*; D005091:Exons / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D007558:Italy; D009154:Mutation; D011978:Receptors, Nicotinic / Q000235:genetics*
D011978:Receptors, Nicotinic; C436489:CHRNA2 protein, human