Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

Nature Genetics

Volumn 24, Issue 4, 2000, Pages 343-345

  Escayg, Andrew ^a   MacDonald, Bryan T ^a   Meisler, Miriam H ^a   Baulac, Stéphanie ^b   Huberfeld, Gilles ^b   An Gourfinkel, Isabelle ^b,c   Brice, Alexis ^b   LeGuern, Eric ^b   Moulard, Bruno ^d   Chaigne, Denys ^e   Buresi, Catherine ^d   Malafosse, Alain ^d  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c GÉNÉTHON   (France)

^d GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^e Clinique Sainte Odile   (France)

Author keywords

[No Author keywords available]

Indexed keywords

SODIUM CHANNEL;

AMINO ACID SUBSTITUTION; ARTICLE; CHROMOSOME 2Q; FEBRILE CONVULSION; GENE AMPLIFICATION; GENE MAPPING; GENE MUTATION; GENERALIZED EPILEPSY; HETEROZYGOSITY; HUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

AMINO ACID SEQUENCE; CHROMOSOMES, HUMAN, PAIR 2; CONSERVED SEQUENCE; DNA MUTATIONAL ANALYSIS; EPILEPSY, GENERALIZED; FEMALE; HETEROZYGOTE; HUMANS; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; NERVE TISSUE PROTEINS; NEURONS; PEDIGREE; PHENOTYPE; POINT MUTATION; SEIZURES, FEBRILE; SODIUM CHANNELS;

EID: 0034069651     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/74159     Document Type: Article

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