发明名称 |
Diagnostic method for epilepsy |
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. |
申请公布号 |
US8288096(B2) |
申请公布日期 |
2012.10.16 |
申请号 |
US20100767523 |
申请日期 |
2010.04.26 |
申请人 |
PETROU STEVEN;BERKOVIC SAMUEL FRANK;SCHEFFER INGRID EILEEN;BIONOMICS LIMITED |
发明人 |
PETROU STEVEN;BERKOVIC SAMUEL FRANK;SCHEFFER INGRID EILEEN |
分类号 |
C12Q1/68;C07K14/705;C12P19/34 |
主分类号 |
C12Q1/68 |
代理机构 |
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代理人 |
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主权项 |
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地址 |
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