Натриеви каналопатии и епилепсия (I част)
Ключови думи:
натриеви каналопатии, SCN1A, синдром на Dravet, GEFSАбстракт
Патологичните варианти в гените, кодиращи алфа субединиците на натриевите канали, причиняват широк спектър от епилептични синдроми, вариращ от доброкачествени епилепсии до тежки епилептични енцефалопатии. Ролята на натриевите канали за възникване на епилепсия се обяснява с участието им в мембранната възбудимост, инициацията и пропагацията на акционния потенциал. Най-чести са мутациите в ген SCN1A, като клиничната изява включва както епилептични синдроми с различна тежест, така и неепилептични заболявания като хемиплегична мигрена и заболявания от спектъра на аутизма. Синдромът на Dravet е прототип на епилептичните енцефалопатии, като патологични варианти в ген SCN1A се доказват в 80% от случаите. Заболяването се характеризира с терапевтично резистентни пристъпи, когнитивен регрес и поведенчески промени.
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