Натриеви каналопатии и епилепсия (I част)

Автори

  • Илияна Александрова УМБАЛНП „Св.Наум”; Медицински университет – София
  • В. Божинова УМБАЛНП „Св.Наум”; Медицински университет – София

Ключови думи:

натриеви каналопатии, SCN1A, синдром на Dravet, GEFS

Абстракт

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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Публикуван

30.12.2021

Как да цитирате?

Александрова, И., & Божинова, В. (2021). Натриеви каналопатии и епилепсия (I част). Българска Неврология, 22(3), 86–92. изтеглен на от https://www.nevrologiabg.com/journal/index.php/neurology/article/view/90

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