The identification of a novel mutation of nicotinic acetylcholine receptor gene CHRNB2 in a Chinese patient: Its possible implication in non-familial nocturnal frontal lobe epilepsy

Epilepsy Research

Volumn 95, Issue 1-2, 2011, Pages 94-99

  Liu, Hui ^a   Lu, Cailing ^b   Li, Zhenzhong ^d   Zhou, Shiyi ^b   Li, Xiaoqiao ^b,c   Ji, Liri ^a   Lu, Qiang ^a   Lv, Ruijuan ^a   Wu, Liwen ^a   Ma, Xu ^b,c  

^a PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

^b NATIONAL RESEARCH INSTITUTE FOR FAMILY PLANNING   (China)

^c GRADUATE SCHOOL OF PEKING UNION MEDICAL COLLEGE   (China)

^d HEBEI MEDICAL UNIVERSITY   (China)

Author keywords

CHRNB2; Mutational screening; Nocturnal frontal lobe epilepsy

Indexed keywords

NICOTINIC RECEPTOR;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY; CHILD; CHINESE; CHRNA 2 GENE; CHRNA 4 GENE; CHRNB 2 GENE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ASSOCIATION; EXON; FEMALE; FRONTAL LOBE EPILEPSY; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HUMAN; HYDROPHOBICITY; INFANT; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NOCTURNAL FRONTAL LOBE EPILEPSY; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN SECONDARY STRUCTURE; SCHOOL CHILD; SEQUENCE ANALYSIS; STRUCTURAL BIOINFORMATICS;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ANTICONVULSANTS; CHILD; CHILD, PRESCHOOL; CHINA; CONSERVED SEQUENCE; ELECTROENCEPHALOGRAPHY; EPILEPSY, FRONTAL LOBE; EXONS; FEMALE; HUMANS; HYDROPHOBIC AND HYDROPHILIC INTERACTIONS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; POINT MUTATION; RECEPTORS, NICOTINIC; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID; YOUNG ADULT;

EID: 79957955141     PISSN: 09201211     EISSN: 18726844     Source Type: Journal    
DOI: 10.1016/j.eplepsyres.2011.03.002     Document Type: Article

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