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A diagnostic method for neonatal or infantile epilepsy syndromes
A diagnostic method for neonatal or infantile epilepsy syndromes
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机译:新生儿或婴儿癫痫综合征的诊断方法
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摘要
A method for the diagnosis of a neonatal or infantile epilepsy syndrome as BFNIS in a patient comprising testing for the presence of an alteration in the SCN2A gene, including in a regulatory region of the gene, in a patient sample, and establishing a diagnosis which will indicate a high probability of BFNIS when an SCN2A alteration is detected or establishing a diagnosis which will indicate a low probability of BFNIS when an SCN2A alteration is not detected.
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