Clinical and genetic characteristics of patients with type 2 early infantile epileptic encephalopathy caused by CDKL5 gene mutations
Early infantile epileptic encephalopathies (EIEE) are a group of disorders characterized by pharmacoresistant epileptic seizures manifesting in infancy and leading to psychomotor retardation. The most common genetic variant with X-linked dominant inheritance is type 2 EIEE associated with CDKL5 gene...
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| Format: | Article |
| Language: | Russian |
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ABV-press
2020-01-01
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| Series: | Русский журнал детской неврологии |
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| Online Access: | https://rjdn.abvpress.ru/jour/article/view/307 |
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| author | E. L. Dadali I. A. Akimova F. A. Konovalov P. A. Shatalov A. Yu. Krasnenko V. V. Strelnikov M. A. Ampleeva |
| author_facet | E. L. Dadali I. A. Akimova F. A. Konovalov P. A. Shatalov A. Yu. Krasnenko V. V. Strelnikov M. A. Ampleeva |
| author_sort | E. L. Dadali |
| collection | DOAJ |
| description | Early infantile epileptic encephalopathies (EIEE) are a group of disorders characterized by pharmacoresistant epileptic seizures manifesting in infancy and leading to psychomotor retardation. The most common genetic variant with X-linked dominant inheritance is type 2 EIEE associated with CDKL5 gene mutations. We evaluated the prevalence of this type of EIEE among Russian patients (n = 148) with epileptic seizures manifesting in infancy and analyzed their clinical and genetic characteristics. We performed exome sequencing for all patients; 15 (10 %) of them (aged between 2 months and 5 years) were found to have CDKL5 gene mutations and were, therefore, diagnosed with type 2 EIEE. The results of correlation analysis suggest that the severity of clinical manifestations of type 2 EIEE is largely determined by the location of mutations affecting the function of the protein encoded by this gene. This is important to ensure better understanding of type 2 EIEE etiology and predict it severity in patients with different allelic variants. |
| first_indexed | 2024-04-10T01:31:36Z |
| format | Article |
| id | doaj.art-7d166f3ebe3242d7ac29da480525e283 |
| institution | Directory Open Access Journal |
| issn | 2073-8803 2412-9178 |
| language | Russian |
| last_indexed | 2024-04-10T01:31:36Z |
| publishDate | 2020-01-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Русский журнал детской неврологии |
| spelling | doaj.art-7d166f3ebe3242d7ac29da480525e2832023-03-13T09:30:12ZrusABV-pressРусский журнал детской неврологии2073-88032412-91782020-01-01143283610.17650/2073-8803-2019-14-3-28-36210Clinical and genetic characteristics of patients with type 2 early infantile epileptic encephalopathy caused by CDKL5 gene mutationsE. L. Dadali0I. A. Akimova1F. A. Konovalov2P. A. Shatalov3A. Yu. Krasnenko4V. V. Strelnikov5M. A. Ampleeva6ФГБНУ «Медико-генетический научный центр им. акад. Н.П. Бочкова»; ФГБОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава России;ФГБНУ «Медико-генетический научный центр им. акад. Н.П. Бочкова»;ООО «Геномед»;ООО «Генотек»;ООО «Генотек»;ФГБНУ «Медико-генетический научный центр им. акад. Н.П. Бочкова»;ООО «Геномед»;Early infantile epileptic encephalopathies (EIEE) are a group of disorders characterized by pharmacoresistant epileptic seizures manifesting in infancy and leading to psychomotor retardation. The most common genetic variant with X-linked dominant inheritance is type 2 EIEE associated with CDKL5 gene mutations. We evaluated the prevalence of this type of EIEE among Russian patients (n = 148) with epileptic seizures manifesting in infancy and analyzed their clinical and genetic characteristics. We performed exome sequencing for all patients; 15 (10 %) of them (aged between 2 months and 5 years) were found to have CDKL5 gene mutations and were, therefore, diagnosed with type 2 EIEE. The results of correlation analysis suggest that the severity of clinical manifestations of type 2 EIEE is largely determined by the location of mutations affecting the function of the protein encoded by this gene. This is important to ensure better understanding of type 2 EIEE etiology and predict it severity in patients with different allelic variants.https://rjdn.abvpress.ru/jour/article/view/307ранняя эпилептическая энцефалопатияэпилептические приступыcdkl5 |
| spellingShingle | E. L. Dadali I. A. Akimova F. A. Konovalov P. A. Shatalov A. Yu. Krasnenko V. V. Strelnikov M. A. Ampleeva Clinical and genetic characteristics of patients with type 2 early infantile epileptic encephalopathy caused by CDKL5 gene mutations Русский журнал детской неврологии ранняя эпилептическая энцефалопатия эпилептические приступы cdkl5 |
| title | Clinical and genetic characteristics of patients with type 2 early infantile epileptic encephalopathy caused by CDKL5 gene mutations |
| title_full | Clinical and genetic characteristics of patients with type 2 early infantile epileptic encephalopathy caused by CDKL5 gene mutations |
| title_fullStr | Clinical and genetic characteristics of patients with type 2 early infantile epileptic encephalopathy caused by CDKL5 gene mutations |
| title_full_unstemmed | Clinical and genetic characteristics of patients with type 2 early infantile epileptic encephalopathy caused by CDKL5 gene mutations |
| title_short | Clinical and genetic characteristics of patients with type 2 early infantile epileptic encephalopathy caused by CDKL5 gene mutations |
| title_sort | clinical and genetic characteristics of patients with type 2 early infantile epileptic encephalopathy caused by cdkl5 gene mutations |
| topic | ранняя эпилептическая энцефалопатия эпилептические приступы cdkl5 |
| url | https://rjdn.abvpress.ru/jour/article/view/307 |
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