title: A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in a Chinese patient with non-familial nocturnal frontal lobe epilepsy.
abstract: So far, only two mutations in the CHRNA4 gene (in three studies) and one mutation in the CHRNB2 gene had been identified in the patients with sporadic nocturnal frontal lobe epilepsy (NFLE). The absence of mutations in the candidate genes in the majority of sporadic NFLE patients suggest that they are rare loci for the disease, but the necessity of performing genetic testing for sporadic cases should not be neglected. We designed mutation screening of exon 5 of CHRNA4, exon 5 of CHRNB2, and exon 6 of CHRNA2 in a group of 56 Chinese sporadic NFLE cases. A de novo missense mutation in the transmembrane domain M2 segment of the α4 subunit of the neuronal nicotinic acetylcholine receptor, c.823A>T, was found in a 15 year-old right-handed male, but was not observed in his parents and 400 control chromosomes. The mutation decreased the surrounding hydrophobicity and slightly altered secondary structure of the protein. No mutations were found in CHRNB2 and CHRNA2.
authors.affiliation: Epilepsy Center and Department of Neurology, Beijing Sanbo Brain Hospital, Capital Medical University, 50, Xiang-shan-yi-ke-song, Haidian District 100093, China. Electronic address: wang_mengyang@aliyun.com.
authors.forename: Meng-yang
authors.initials: MY
authors.lastname: Wang
authors.affiliation: Epilepsy Center and Department of Neurology, Beijing Sanbo Brain Hospital, Capital Medical University, 50, Xiang-shan-yi-ke-song, Haidian District 100093, China.
authors.forename: Xing-zhou
authors.initials: XZ
authors.lastname: Liu
authors.affiliation: Epilepsy Center and Department of Neurology, Beijing Sanbo Brain Hospital, Capital Medical University, 50, Xiang-shan-yi-ke-song, Haidian District 100093, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Wang
authors.affiliation: Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, 1, Shuaifuyuan, Dongdan, Beijing 100730, China.
authors.forename: Li-wen
authors.initials: LW
authors.lastname: Wu
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002681:China; D017034:Epilepsy, Frontal Lobe / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D057927:Hydrophobic and Hydrophilic Interactions; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D017433:Protein Structure, Secondary; D011978:Receptors, Nicotinic / Q000235:genetics*; D017386:Sequence Homology, Amino Acid; D055815:Young Adult
chemical_list: D011978:Receptors, Nicotinic; C436489:CHRNA2 protein, human
keywords: CHRNA4; Mutation; Nicotinic acetylcholine receptor; Nocturnal frontal lobe epilepsy