Diagnostic method for neonatal or infantile epilepsy syndromes
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United States of America Patent
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Issued Date -
May 24, 2007
app pub date -
Oct 13, 2004
filing date -
Oct 13, 2003
priority date (Note) -
Abandoned
status (Latency Note)
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Abstract
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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