A DIAGNOSTIC METHOD FOR NEONATAL OR INFANTILE EPILEPSY SYNDROMES

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.