Clinical and genetic characteristics of patients with type 2 early infantile epileptic encephalopathy caused by CDKL5 gene mutations
| Autor: | E. L. Dadali, I. A. Akimova, F. A. Konovalov, P. A. Shatalov, A. Yu. Krasnenko, V. V. Strelnikov, M. A. Ampleeva |
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| Jazyk: | ruština |
| Rok vydání: | 2020 |
| Předmět: | |
| Zdroj: | Русский журнал детской неврологии, Vol 14, Iss 3, Pp 28-36 (2020) |
| Druh dokumentu: | article |
| ISSN: | 2073-8803 2412-9178 |
| DOI: | 10.17650/2073-8803-2019-14-3-28-36 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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