Russian Journal of Child NeurologyRussian Journal of Child NeurologyРусский журнал детской неврологии2073-88032412-9178Publishing House ABV Press36010.17650/2073-8803-2021-16-1-2-10-41ORIGINAL REPORTSОРИГИНАЛЬНЫЕ СТАТЬИGenetic epilepsy caused by CDKL5 gene mutations as an example of epileptic encephalopathy and developmental encephalopathy: literature review and own observationsгенетическая эпилепсия, вызванная мутациями в гене CDKL5, как пример эпилептической энцефалопатии и энцефалопатии развития: обзор литературы и собственные наблюденияhttps://orcid.org/0000-0001-8855-7740MukhinK. Yu.МухинК. Ю.
Russian Federation

Konstantin Yuryevich Mukhin 

5 Nagornaya St., Troitsk, Moscow 108840

9 Akad. Anokhina St., Moscow 119571

Константин Юрьевич Мухин 

108841 Москва, Троицк, ул. Нагорная, 5

119579 Москва, ул. Акад. Анохина, 9

center@epileptologist.ruhttps://orcid.org/0000-0001-9050-2036PylaevaO. A.ПылаеваО. А.
Russian Federation

Olga Anatolyevna Pylaeva 

5 Nagornaya St., Troitsk, Moscow 108840

9 Akad. Anokhina St., Moscow 119571

Ольга Анатольевна Пылаева  

108841 Москва, Троицк, ул. Нагорная, 5

119579 Москва, ул. Акад. Анохина, 9

olgapylaeva@yandex.ruhttps://orcid.org/0000-0001-6125-0618BobylovaM. Yu.БобыловаМ. Ю.
Russian Federation

5 Nagornaya St., Troitsk, Moscow 108840

9 Akad. Anokhina St., Moscow 119571

108841 Москва, Троицк, ул. Нагорная, 5

119579 Москва, ул. Акад. Анохина, 9

ChadaevV. A.ЧадаевВ. А.
Russian Federation

9 Akad. Anokhina St., Moscow 119571

119579 Москва, ул. Акад. Анохина, 9

Svt. Luka’s Institute of Child Neurology and EpilepsyООО «Институт детской неврологии и эпилепсии им. Свт. Луки»Svt. Luka’s Institute of Pediatric and Adult Neurology and EpilepsyООО «Институт детской и взрослой неврологии и эпилепсии им. Свт. Луки»15042021161-210413007202130072021Copyright ©; 2021, ABV-PressCopyright ©; 2021, АБВ-пресс2021ABV-PressАБВ-прессhttps://rjdn.abvpress.ru/jour/about/editorialPolicieshttps://rjdn.abvpress.ru/jour/article/view/360

The disease caused by mutations in the CDKL5 gene (encoding cyclin-dependent kinase 5, CDK5) belongs to the group of early (infantile) epileptic encephalopathies caused by alterations in the genome. Currently, the disease is called “developmental encephalopathy and epileptic encephalopathy type 2”. This disorder is a complex combination of symptoms that develop due to deficiency or absence of the CDKL5 gene product, which is serine/threonine kinase. The CDKL5 gene is located on X chromosome; the disease has an X-linked dominant inheritance pattern. This literature review summarizes relevant studies analyzing the disease caused by CDKL5 gene mutations, including its genetic and epidemiological aspects, clinical manifestations, characteristics of epilepsy, principles of diagnosis, and therapeutic approaches. We present a case series of several patients with genetic disorders involving the CDKL5 gene.

Заболевание, вызванное мутациями в гене CDKL5 (циклинзависимая киназа 5-го типа (cyclin-dependent kinase 5, CDK5), относится к группе ранних (младенческих) эпилептических энцефалопатий, обусловленных генетическими причинами. В настоящее время заболевание носит название «энцефалопатия развития и эпилептическая энцефалопатия 2-го типа». Данное заболевание представляет собой сложный симптомокомплекс, который формируется при дефиците или полном отсутствии в организме продукта гена CDKL5 (фермента серин-треонин киназы). ген CDKL5 локализован на Х-хромосоме, заболевание имеет Х-сцепленный доминантный тип наследования. Авторы представляют обзор современной литературы, посвященный заболеванию, вызванному мутацией в гене CDKL5 (включая генетические и эпидемиологические аспекты, клинические проявления, особенности течения эпилепсии, принципы диагностики, терапевтические подходы), а также описание собственных наблюдений пациентов с генетическими нарушениями с участием гена CDKL5.

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