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Article: A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy
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TitleA novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy
 
AuthorsChen, Y2
Wu, L2
Fang, Y3
He, Z1
Peng, B2
Shen, Y3
Xu, Q3
 
KeywordsChemicals And Cas Registry Numbers
 
Issue Date2009
 
PublisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/epilepsyres
 
CitationEpilepsy Research, 2009, v. 83 n. 2-3, p. 152-156 [How to Cite?]
DOI: http://dx.doi.org/10.1016/j.eplepsyres.2008.10.009
 
AbstractAutosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is known to be partly caused by mutations in the transmembrane domain (TM) 1-3 of the genes of the neuronal nicotinic acetylcholine receptor (nAChR) α4-subunit (CHRNA4), β2-subunit (CHRNB2) and α2-subunit (CHRNA2). The more common cases of sporadic nocturnal frontal lobe epilepsy (NFLE) that are not differentiated from ADNFLE by phenotype have been found to be associated with the mutation of CHRNA4 reported in ADNFLE. In order to assess the genetic defects in NFLE, we performed a mutation screening in 33 unrelated patients with sporadic NFLE by amplifying and sequencing bidirectionally TM 1-3 of CHRNA4, CHRNB2 and CHRNA2 which contain the mutations reported in ADNFLE. In screening CHRNA4, we identified a novel mutation in one patient that causes a α4-R308H amino acid exchange outside the TM, and in the second intracellular loop between the third and fourth transmembrane domains. The mutation was not observed in 400 control chromosomes. No mutations were present in parts of CHRNB2 and CHRNA2. © 2008 Elsevier B.V. All rights reserved.
 
ISSN0920-1211
2012 Impact Factor: 2.241
2012 SCImago Journal Rankings: 0.942
 
DOIhttp://dx.doi.org/10.1016/j.eplepsyres.2008.10.009
 
ISI Accession Number IDWOS:000263818400008
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorChen, Y
 
dc.contributor.authorWu, L
 
dc.contributor.authorFang, Y
 
dc.contributor.authorHe, Z
 
dc.contributor.authorPeng, B
 
dc.contributor.authorShen, Y
 
dc.contributor.authorXu, Q
 
dc.date.accessioned2010-09-17T10:37:24Z
 
dc.date.available2010-09-17T10:37:24Z
 
dc.date.issued2009
 
dc.description.abstractAutosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is known to be partly caused by mutations in the transmembrane domain (TM) 1-3 of the genes of the neuronal nicotinic acetylcholine receptor (nAChR) α4-subunit (CHRNA4), β2-subunit (CHRNB2) and α2-subunit (CHRNA2). The more common cases of sporadic nocturnal frontal lobe epilepsy (NFLE) that are not differentiated from ADNFLE by phenotype have been found to be associated with the mutation of CHRNA4 reported in ADNFLE. In order to assess the genetic defects in NFLE, we performed a mutation screening in 33 unrelated patients with sporadic NFLE by amplifying and sequencing bidirectionally TM 1-3 of CHRNA4, CHRNB2 and CHRNA2 which contain the mutations reported in ADNFLE. In screening CHRNA4, we identified a novel mutation in one patient that causes a α4-R308H amino acid exchange outside the TM, and in the second intracellular loop between the third and fourth transmembrane domains. The mutation was not observed in 400 control chromosomes. No mutations were present in parts of CHRNB2 and CHRNA2. © 2008 Elsevier B.V. All rights reserved.
 
dc.description.natureLink_to_subscribed_fulltext
 
dc.identifier.citationEpilepsy Research, 2009, v. 83 n. 2-3, p. 152-156 [How to Cite?]
DOI: http://dx.doi.org/10.1016/j.eplepsyres.2008.10.009
 
dc.identifier.doihttp://dx.doi.org/10.1016/j.eplepsyres.2008.10.009
 
dc.identifier.epage156
 
dc.identifier.isiWOS:000263818400008
 
dc.identifier.issn0920-1211
2012 Impact Factor: 2.241
2012 SCImago Journal Rankings: 0.942
 
dc.identifier.issue2-3
 
dc.identifier.pmid19058950
 
dc.identifier.scopuseid_2-s2.0-58849120436
 
dc.identifier.spage152
 
dc.identifier.urihttp://hdl.handle.net/10722/92145
 
dc.identifier.volume83
 
dc.languageeng
 
dc.publisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/epilepsyres
 
dc.relation.ispartofEpilepsy Research
 
dc.relation.referencesReferences in Scopus
 
dc.subjectChemicals And Cas Registry Numbers
 
dc.titleA novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy
 
dc.typeArticle
 
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Author Affiliations
  1. China Medical University Shenyang
  2. Peking Union Medical College
  3. Institute of Basic Medical Sciences Chinese Academy of Medical Sciences