Document Detail

A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy.
MedLine Citation:
PMID:  19058950     Owner:  NLM     Status:  MEDLINE    
Autosomal 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) alpha4-subunit (CHRNA4), beta2-subunit (CHRNB2) and alpha2-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 alpha4-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.
Yan Chen; Liwen Wu; Yue Fang; Zhiyi He; Bingwei Peng; Yan Shen; Qi Xu
Publication Detail:
Type:  Journal Article     Date:  2008-12-05
Journal Detail:
Title:  Epilepsy research     Volume:  83     ISSN:  1872-6844     ISO Abbreviation:  Epilepsy Res.     Publication Date:  2009 Feb 
Date Detail:
Created Date:  2009-02-03     Completed Date:  2009-06-22     Revised Date:  2013-05-20    
Medline Journal Info:
Nlm Unique ID:  8703089     Medline TA:  Epilepsy Res     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  152-6     Citation Subset:  IM    
Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Dong Dan, Beijing, China.
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MeSH Terms
Arginine / genetics
Child, Preschool
DNA Mutational Analysis
Epilepsy, Frontal Lobe / genetics*
Gene Frequency
Genetic Predisposition to Disease*
Histidine / genetics
Mutation, Missense / genetics*
Receptors, Nicotinic / genetics*
Young Adult
Reg. No./Substance:
0/Receptors, Nicotinic; 0/nicotinic acetylcholine receptor alpha4 subunit; 71-00-1/Histidine; 74-79-3/Arginine

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

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