Polymorphism analysis of JRK/JH8, the human homologue of mouse jerky, and description of a rare mutation in a case of CAE evolving to JME

Epilepsy Research

Volumn 46, Issue 2, 2001, Pages 157-167

  Moore, Tom ^b   Hecquet, Stéphane ^a   McLellann, Andrew ^c   Ville, Dorothée ^d   Grid, Djamel ^d   Picard, Fabienne ^e   Moulard, Bruno ^e   Asherson, Philip ^f   Makoff, Andrew J ^f   McCormick, David ^g   Nashef, Lina ^g,h   Froguel, Philippe ^a   Arzimanoglou, Alexis ⁱ   LeGuern, Eric ^j   Bailleul, Bernard ^a  

^a INSTITUT DE BIOLOGIE DE LILLE   (France)

^b UNIVERSITY COLLEGE CORK   (Ireland)

^c BABRAHAM INSTITUTE   (United Kingdom)

^d GÉNÉTHON   (France)

^e GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^f KING'S COLLEGE LONDON   (United Kingdom)

^g KENT AND CANTERBURY HOSPITAL   (United Kingdom)

^h KING S COLLEGE HOSPITAL   (United Kingdom)

ⁱ HÔPITAL ROBERT DEBRÉ   (France)

^j PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

more..

Author keywords

Centromere; Glycosylation; Idiopathic epilepsy; Jerky; Polymorphism

Indexed keywords

AMINO ACID; ARGININE; ASPARAGINE; BINDING PROTEIN; COMPLEMENTARY DNA; CYSTEINE; GLUTAMIC ACID; GLYCINE; HISTIDINE; LEUCINE; METHIONINE; PROLINE; SERINE; THREONINE; VALINE;

ABSENCE; AMINO ACID SEQUENCE; ARTICLE; BENIGN CHILDHOOD EPILEPSY; CENTROMERE; CONTROLLED STUDY; DISEASE COURSE; DNA BINDING; DNA SEQUENCE; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC CODE; GENETIC POLYMORPHISM; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MYOCLONUS EPILEPSY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN;

EID: 0034895289     PISSN: 09201211     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0920-1211(01)00275-3     Document Type: Article

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