Title:
SCN1A遺伝子における変異を検出することによっててんかんを診断および処置するための方法
Document Type and Number:
Japanese Patent JP2008546376
Kind Code:
A
Abstract:
A method for the diagnosis of an epilepsy syndrome, including SMEI or an SMEI-related syndrome, in a patient comprising testing for an alteration in the SCN1A gene in a sample obtained from the patient; and if an alteration is identified, comparing said alteration to any one of those listed in Table 3, wherein if said alteration is identical to any one of those listed in Table 3, a diagnosis of an epilepsy syndrome, including SMEI or an SMEI-related syndrome, in said patient is made in accordance with the correlation set forth in Table 3.
Inventors:
Murray, John, Charles
Harkin, Louise
Berkovic, Samuel, Frank
Scheffer, Ingrid Irene
Peter, Stephen
Harkin, Louise
Berkovic, Samuel, Frank
Scheffer, Ingrid Irene
Peter, Stephen
Application Number:
JP2008516076A
Publication Date:
December 25, 2008
Filing Date:
June 16, 2006
Export Citation:
Assignee:
Bionomics limited
International Classes:
C12N15/09; A01K67/027; A61K31/713; A61K38/00; A61K39/395; A61K45/00; A61K48/00; A61P25/08; C07K14/47; C07K16/18; C07K16/46; C12N1/15; C12N1/19; C12N1/21; C12N5/10; C12P21/02; C12Q1/02; C12Q1/68; G01N33/53
Foreign References:
| WO2004085674A1 | 2004-10-07 |
Other References:
JPN6012002361; Ｅｐｉｌｅｐｓｉａ，２００４，４５（２），ｐ．１４０-８
JPN6012002363; Ｂｒａｉｎ，２００３，１２６（Ｐｔ３），ｐ．５３１-４６
JPN6012002363; Ｂｒａｉｎ，２００３，１２６（Ｐｔ３），ｐ．５３１-４６
Attorney, Agent or Firm:
Nobuaki Kazehaya
Noriko Asano
Noriko Asano