Utjecaj polimorfizma rs3812718 gena SCN1A na učinkovitost lamotrigina u bolesnika s parcijalnom epilepsijom [Influence of rs3812718 polymorphism in the SCN1A gene on lamotrigine efficacy in patients with partial epilepsy]

Marković, Ivana (2019) Utjecaj polimorfizma rs3812718 gena SCN1A na učinkovitost lamotrigina u bolesnika s parcijalnom epilepsijom [Influence of rs3812718 polymorphism in the SCN1A gene on lamotrigine efficacy in patients with partial epilepsy]. PhD thesis, Sveučilište u Zagrebu.

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Abstract

Polymorphism rs3812718 (IVS 5 - 91G > A) of the sodium voltage-gated channel alpha subunit 1 (SCN1A) gene has been associated with inadequate sensitivity and responsiveness to common antiepileptic drugs. The purpose of this study was to investigate the effect of SCN1A rs3812718 (IVS 5 – 91 G > A) polymorphism on the response to lamotrigine. SCN1A rs3812718 (IVS 5 – 91 G > A) polymorphism was genotyped in 100 patients with focal epilepsy. After the introduction of lamotrigine, follow-up visits were performed every 3 months and lamotrigine dose was adjusted, in order to control disease, up to the maximum tolerable dose. Lamotrigine responsiveness was defined as a 75% and more reduction in seizure frequency on a stable dose of lamotrigine during 12 consecutive months. There was no significant difference in genotype and allele distribution between the responder and non-responder groups and no significant differences in the prevalence of responsiveness to lamotrigine between carriers of different genotypes. Average maintenance lamotrigine doses in the responder group differed by genotype in the order AA > GA > GG, but these differences did not reach statistical significance. Our data suggest no association between SCN1A rs3812718 (IVS 5 – 91 G > A) polymorphism and response to lamotrigine.

Abstract in Croatian

Polimorfizam rs3812718 (IVS 5 – 91 G > A) SCN1A gena povezivan je s neadekvatnim odgovorom na antiepileptike čiji mehanizam djelovanja je blokiranje o naponu ovisnih natrijskih kanala. Cilj ovog istraživanja bio je istražiti utjecaj polimorfizma rs3812718 (IVS 5 – 91 G > A) SCN1A gena na odgovor na terapiju lamotriginom. Genetska analiza provedena je u sto bolesnika sa žarišnom epilepsijom. Nakon uvođenja lamotrigina u terapiju, bolesnici su dolazili na redovne kontrole svaka tri mjeseca na kojima je ovisno o kliničkom odgovoru korigirana doza lamotrigina do maksimalne tolerabilne doze. Dobar odgovor na lamotrigin definiran je kao 75 % i viša redukcija frekvencije napada na stabilnoj dozi lamotrigina tijekom 12 mjeseci. Nije opservirana značajna razlika u distribuciji genotipa i alela između bolesnika s dobrim odgovorom i onih s lošim odgovorom na lamotrigin, kao ni razlika u učestalosti dobrog odgovora na lamotrigin između genotipa. Prosječne dnevne doze lamotrigina u grupi bolesnika s dobrim odgovorom na lamotrigin nisu se statistički razlikovale, no opservirana je razlika doza između genotipa prema obrascu AA > GA > GG. Ovim istraživanjem nije potvrđen utjecaj polimorfizma rs3812718 (IVS 5 – 91 G > A) SCN1A gena na učinkovitost lamotrigina u liječenju žarišnih epilepsija.

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