medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2018.10.20-25medgen-588Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL RESEARCHКлинико-генетические характеристики пациентов с хромосомными перестройками, сопровождающимися судорогамиClinical and genetic characteristics of patients with chromosomal rearrangements accompanied by seizuresАкимоваИ. А.AkimovaI. A.akimova@med-gen.ruБоровиковА. О.BorovikovA. O.noemail@neicon.ruФГБНУ «Медико-генетический научный центр»РоссияResearch Centre for Medical Genetics, MoscowRussian Federation20180110201817102025Copyright © Акимова И.А., Боровиков А.О., 20182018Акимова И.А., Боровиков А.О.Akimova I.A., Borovikov A.O.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/588

Молекулярно-генетические причины наследственных эпилепсий разнообразны и включают в себя как моногенную, так и хромосомную патологию. Моногенные причины наследственных эпилепсий изучены лучше, чем судороги при хромосомных перестройках. При проведении анализа выборки больных с судорогами, обусловленными хромосомными перестройками, было показано, что наиболее часто встречаются изменения, затрагивающие длинное плечо второй хромосомы и короткие плечи хромосом 1 и 4, причём тяжесть течения заболевания зависит не столько от размера перестройки, сколько от характеристики генов, вошедших в её состав. Кроме того, при сравнении выборок пациентов с хромосомными и моногенными причинами наследственных эпилепсий установлено, что в подавляющем большинстве случаев хромосомная патология дебютирует с задержки психомоторного развития, предшествующей началу судорог, в то время как при моногенных заболеваниях судороги, как правило, возникают раньше и влекут за собой задержку развития. Эти клинико-генетические корреляции играют значительную роль при составлении диагностических алгоритмов, направленных на оптимизацию молекулярно-генетической диагностики наследственных эпилепсий.

Molecular genetic causes of hereditary epilepsy are diverse and include both monogenic and chromosomal pathologies. Monogenic causes of hereditary epilepsies are better studied than seizures syndromes with chromosome rearrangements. In the study of the group of patients with seizures caused by chromosome rearrangements, it was shown that the most frequent changes are those affecting the long arm of the second chromosome and the short arms of chromosome 1 and 4. The severity of the disease depends not so much on the size of the rearrangements as on the list of the genes, included in the affected area. In addition, when comparing groups of patients with chromosomal ore monogenic causes of hereditary epilepsy, it has been established that in the majority of cases, the chromosomal pathology debuts with a delay in psycho-motor development preceding the onset of seizures, while in monogenic diseases, seizures tend to occur earlier followed by the delay of development. These clinical-genetic correlations play a significant role in the order of the molecular diagnostic procedure aimed at optimizing the genetic diagnosis of hereditary epilepsies.

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The authors declare that there are no conflicts of interest present.