КЛИНИКО-ГЕНЕТИЧЕСКАЯ ГЕТЕРОГЕННОСТЬ ЮНОШЕСКОЙ МИОКЛОНИЧЕСКОЙ ЭПИЛЕПСИИ

Идиопатические генерализованные эпилепсии составляют примерно одну треть всех эпилепсий. Юношеская миоклоническая эпилепсия (ЮМЭ, синдром Янца) характеризуется миоклониями при пробуждении, генерализованными тонико-клоническими приступами и типичными абсансами, последние встречаются более чем у одной трети пациентов. Тем не менее, типичные абсансы не являются преобладающим типом приступов. Юношеская миоклоническая эпилепсия обычно развивается у подростков в возрасте от 12 до 18 лет. Половина пациентов с этим заболеванием имеют родственников, страдающих эпилепсией. Генетическая основа этого синдрома является сложной, а механизм наследования неясен. Вполне возможно, что за развитие ЮМЭ ответственны несколько различных генов. Авторы представили обзор результатов современных клинических и генетических исследований юношеской миоклонической эпилепсии. Информация, полученная в результате этого обзора, наводит на мысль, что данное наследственное заболевание заслуживает дальнейшего изучения.

идиопатическая генерализованная эпилепсия, юношеская миоклоническая эпилепсия, ЮМЭ, синдром Янца, подсиндром, фенотип, генотип, генетика, ген, мутация, полигенное наследование, обзор

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