Methods for the diagnosis and treatment of epilepsy

C - Chemistry – Metallurgy – 12 – Q

Patent

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Details

C12Q 1/68 (2006.01) A61K 39/395 (2006.01) C07K 14/47 (2006.01) C12N 15/01 (2006.01)

Patent

CA 2520271

A method for the diagnosis of SMEI in a patient comprising detecting an alteration in the SCN1A gene, including in a regulatory region of the gene in a patient sample, and ascertaining whether the alteration is known to be SMEI associated or non-SMEI associated or, if not known to be either, determining the likelihood that it is a SMEI associated alteration.

Cette invention concerne une méthode de diagnostic de SMEI chez un patient, consistant à détecter, dans un échantillon prélevé sur le patient, une altération du gène SCN1A, notamment dans une région de régulation du gène, et à déterminer si cette altération est connue comme étant associée à SMEI ou non associée à SMEI ou, dans l'ignorance de l'une ou l'autre de ces possibilités, à déterminer les probabilités que cette altération soit associée à SMEI.

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