Document Detail


CHRNA2 mutations are rare in the NFLE population: evaluation of a large cohort of Italian patients.
MedLine Citation:
PMID:  18226955     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Romina Combi; Luigi Ferini-Strambi; Maria Luisa Tenchini
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Publication Detail:
Type:  Journal Article     Date:  2008-01-28
Journal Detail:
Title:  Sleep medicine     Volume:  10     ISSN:  1389-9457     ISO Abbreviation:  Sleep Med.     Publication Date:  2009 Jan 
Date Detail:
Created Date:  2009-01-19     Completed Date:  2009-03-30     Revised Date:  2010-01-13    
Medline Journal Info:
Nlm Unique ID:  100898759     Medline TA:  Sleep Med     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  139-42     Citation Subset:  IM    
Affiliation:
Department of Biotechnology and Biosciences, University of Milano-Bicocca, p.zza della Scienza 2, 20126 Milano, Italy. romina.combi@unimib.it
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MeSH Terms
Descriptor/Qualifier:
Adult
Child
Cohort Studies
Epilepsy, Frontal Lobe / genetics*
Exons / genetics
Genetic Predisposition to Disease
Humans
Italy
Mutation
Receptors, Nicotinic / genetics*
Chemical
Reg. No./Substance:
0/CHRNA2 protein, human; 0/Receptors, Nicotinic; 0/nicotinic receptor beta2

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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