C - Chemistry – Metallurgy – 12 – N
Patent
C - Chemistry, Metallurgy
12
N
C12N 15/12 (2006.01) A61K 31/7088 (2006.01) A61K 38/17 (2006.01) A61K 39/395 (2006.01) A61K 48/00 (2006.01) C07K 14/47 (2006.01) C07K 14/705 (2006.01) C07K 16/18 (2006.01) C07K 16/28 (2006.01) C12P 21/02 (2006.01) C12Q 1/68 (2006.01) G01N 33/53 (2006.01)
Patent
CA 2612180
A method for the diagnosis of an epilepsy syndrome, including SMEI or an SMEI- related syndrome, in a patient comprising testing for an alteration in the SCN1A gene in a sample obtained from the patient; and if an alteration is identified, comparing said alteration to any one of those listed in Table 3, wherein if said alteration is identical to any one of those listed in Table 3, a diagnosis of an epilepsy syndrome, including SMEI or an SMEI-related syndrome, in said patient is made in accordance with the correlation set forth in Table 3.
La présente invention concerne une méthode de diagnostic d'un syndrome épileptique, y compris le syndrome EMSN ou un syndrome associé à EMSN, et qui consiste à rechercher une altération du gène SCN1A dans un échantillon prélevé sur un patient et, si l'altération est identifiée, à comparer cette altération à toutes celles qui sont reprises au Tableau 3. Si ladite altération est identique à l'une des altérations reprises au Tableau 3, un diagnostic d'un syndrome épileptique, y compris le syndrome EMSN ou un syndrome associé à EMSN, sera effectué chez ledit patient conformément à la corrélation avancée au Tableau 3.
Berkovic Samuel Frank
Harkin Louise
Mulley John Charles
Petrou Steven
Scheffer Ingrid Eileen
Bionomics Limited
Smart & Biggar
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