C - Chemistry – Metallurgy – 12 – Q
Patent
C - Chemistry, Metallurgy
12
Q
C12Q 1/68 (2006.01) C40B 30/04 (2006.01)
Patent
CA 2747718
A strong association between variants in Elongator Protein Complex 4, (ELP4) (specifically single nucleotide polymorphisms, SNPs) at the 11p13 locus on chromosome 11 and the centrotemporal sharp wave trait (CTS) has been discovered, which association has diagnostic significance for rolandic epilepsy. It has further been discovered that the 11p13 locus has a pleiotropic role in the development of speech motor praxis and CTS, which supports a neurodevelopmental origin for classic rolandic epilepsy (RE).
Selon l'invention, une forte association entre des variantes de la protéine du complexe Elongator 4 (ELP4) (en particulier les polymorphismes de nucléotide simple, PNS) sur le site 11p13 du chromosome 11 et la caractéristique d'onde pointue centro-temporale (CTS) a été découverte, laquelle association signifie un diagnostic d'épilepsie rolandique. Il a par ailleurs été découvert que le site 11p13 joue un rôle de pléiotropie dans le développement de la praxie motrice de la parole et du CTS, ce qui confirme que l'origine de l'épilepsie rolandique (RE) classique se trouve dans la neurologie du développement.
Pal Deb Kumar
Strug Lisa Joanna
Columbia University
Marks & Clerk
The Hospital For Sick Children
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