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METHODES DE DIAGNOSTIC ET DE TRAITEMENT DE L'EPILEPSIE
专利权人:
BIONOMICS LIMITED
发明人:
申请号:
EP04718885.9
公开号:
EP1606418B1
申请日:
2004.03.10
申请国别(地区):
EP
年份:
2014
代理人:
摘要:
A method for the diagnosis of SMEI in a patient comprising: (1) detecting an alteration in the SCN1A gene, including in a regulatory region of the gene, in a patient sample; (2) ascertaining whether the alteration is known to be SMEI associated or non-SMEI associated; and (3) (a) establishing a diagnosis of a high probability of SMEI where the alteration is known to be SMEI associated; or (b) establishing a diagnosis of a low probability of SMEI where the alteration is non-SMEI associated; or (e) or, if not known to be either, (i) considering genetic data for parents and/or relatives; (ii) establishing whether the alteration has arisen de novo or is inherited; and (iii) establishing a diagnosis of a low probability of SMEI where the alteration is inherited but a diagnosis of a high probability of SMEI if the alteration is de novo.
来源网站:
中国工程科技知识中心
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http://www.ckcest.cn/home/

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