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Article: A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy

TitleA novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy
Authors
KeywordsChemicals And Cas Registry Numbers
Issue Date2009
PublisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/epilepsyres
Citation
Epilepsy Research, 2009, v. 83 n. 2-3, p. 152-156 How to Cite?
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.
Persistent Identifierhttp://hdl.handle.net/10722/92145
ISSN
2015 Impact Factor: 2.237
2015 SCImago Journal Rankings: 1.026
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorChen, Yen_HK
dc.contributor.authorWu, Len_HK
dc.contributor.authorFang, Yen_HK
dc.contributor.authorHe, Zen_HK
dc.contributor.authorPeng, Ben_HK
dc.contributor.authorShen, Yen_HK
dc.contributor.authorXu, Qen_HK
dc.date.accessioned2010-09-17T10:37:24Z-
dc.date.available2010-09-17T10:37:24Z-
dc.date.issued2009en_HK
dc.identifier.citationEpilepsy Research, 2009, v. 83 n. 2-3, p. 152-156en_HK
dc.identifier.issn0920-1211en_HK
dc.identifier.urihttp://hdl.handle.net/10722/92145-
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.en_HK
dc.languageengen_HK
dc.publisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/epilepsyresen_HK
dc.relation.ispartofEpilepsy Researchen_HK
dc.subjectChemicals And Cas Registry Numbersen_HK
dc.titleA novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsyen_HK
dc.typeArticleen_HK
dc.identifier.emailChen, Y:ychenc@hkucc.hku.hken_HK
dc.identifier.authorityChen, Y=rp1318en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1016/j.eplepsyres.2008.10.009en_HK
dc.identifier.pmid19058950-
dc.identifier.scopuseid_2-s2.0-58849120436en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-58849120436&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume83en_HK
dc.identifier.issue2-3en_HK
dc.identifier.spage152en_HK
dc.identifier.epage156en_HK
dc.identifier.isiWOS:000263818400008-

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