Title:
新規変異
Document Type and Number:
Japanese Patent JP2004535178
Kind Code:
A
Abstract:
An isolated nucleic acid molecule encoding a mutant mammalian beta-1 subunit of a voltage-gated sodium channel wherein a mutation event has occurred and said mutation event disrupts the functioning of an assembled sodium channel so as to produce an epilepsy phenotype, with the proviso that said mutation event is not one which results in a C121W substitution in the encoded polypeptide.
Inventors:
Murray, John, Charles
Wallace, Robin, Heather
Ingrid, Irene, Scheffer
Wallace, Robin, Heather
Ingrid, Irene, Scheffer
Application Number:
JP2002587594A
Publication Date:
November 25, 2004
Filing Date:
May 09, 2002
Export Citation:
Assignee:
Bionomics limited
International Classes:
A01K67/027; A61K31/711; A61K45/00; A61K48/00; A61P25/08; C07K14/47; C07K14/705; C07K16/18; C12N1/15; C12N1/19; C12N1/21; C12N5/10; C12N15/09; C12P21/02; C12P21/08; C12Q1/68; G01N33/15; G01N33/50; A61K38/00; (IPC1-7): C12N15/09; A01K67/027; A61K31/711; A61K45/00; A61K48/00; A61P25/08; C07K14/47; C07K16/18; C12N1/15; C12N1/19; C12N1/21; C12N5/10; C12P21/02; C12Q1/68; G01N33/15; G01N33/50
Attorney, Agent or Firm:
Nobuaki Kazehaya
Noriko Asano
Noriko Asano