Genetic epilepsy caused by CDKL5 gene mutations as an example of epileptic encephalopathy and developmental encephalopathy: literature review and own observations
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”....
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| Format: | Article |
| Language: | Russian |
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ABV-press
2021-07-01
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| Series: | Русский журнал детской неврологии |
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| Online Access: | https://rjdn.abvpress.ru/jour/article/view/360 |
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| author | K. Yu. Mukhin O. A. Pylaeva M. Yu. Bobylova V. A. Chadaev |
| author_facet | K. Yu. Mukhin O. A. Pylaeva M. Yu. Bobylova V. A. Chadaev |
| author_sort | K. Yu. Mukhin |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-743aee6d9ca14825bedbb68a9a24867d |
| institution | DOAJ |
| issn | 2073-8803 2412-9178 |
| language | Russian |
| publishDate | 2021-07-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Русский журнал детской неврологии |
| spelling | doaj-art-743aee6d9ca14825bedbb68a9a24867d2025-08-20T03:22:03ZrusABV-pressРусский журнал детской неврологии2073-88032412-91782021-07-01161-2104110.17650/2073-8803-2021-16-1-2-10-41240Genetic epilepsy caused by CDKL5 gene mutations as an example of epileptic encephalopathy and developmental encephalopathy: literature review and own observationsK. Yu. Mukhin0O. A. Pylaeva1M. Yu. Bobylova2V. A. Chadaev3Svt. Luka’s Institute of Child Neurology and Epilepsy; Svt. Luka’s Institute of Pediatric and Adult Neurology and EpilepsySvt. Luka’s Institute of Child Neurology and Epilepsy; Svt. Luka’s Institute of Pediatric and Adult Neurology and EpilepsySvt. Luka’s Institute of Child Neurology and Epilepsy; Svt. Luka’s Institute of Pediatric and Adult Neurology and EpilepsySvt. Luka’s Institute of Pediatric and Adult Neurology and EpilepsyThe 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.https://rjdn.abvpress.ru/jour/article/view/360epileptic encephalopathydevelopmental encephalopathyearly epileptic encephalopathycdkl5 geneepilepsyclinical manifestationsdiagnosistherapy |
| spellingShingle | K. Yu. Mukhin O. A. Pylaeva M. Yu. Bobylova V. A. Chadaev Genetic epilepsy caused by CDKL5 gene mutations as an example of epileptic encephalopathy and developmental encephalopathy: literature review and own observations Русский журнал детской неврологии epileptic encephalopathy developmental encephalopathy early epileptic encephalopathy cdkl5 gene epilepsy clinical manifestations diagnosis therapy |
| title | Genetic epilepsy caused by CDKL5 gene mutations as an example of epileptic encephalopathy and developmental encephalopathy: literature review and own observations |
| title_full | Genetic epilepsy caused by CDKL5 gene mutations as an example of epileptic encephalopathy and developmental encephalopathy: literature review and own observations |
| title_fullStr | Genetic epilepsy caused by CDKL5 gene mutations as an example of epileptic encephalopathy and developmental encephalopathy: literature review and own observations |
| title_full_unstemmed | Genetic epilepsy caused by CDKL5 gene mutations as an example of epileptic encephalopathy and developmental encephalopathy: literature review and own observations |
| title_short | Genetic epilepsy caused by CDKL5 gene mutations as an example of epileptic encephalopathy and developmental encephalopathy: literature review and own observations |
| title_sort | genetic epilepsy caused by cdkl5 gene mutations as an example of epileptic encephalopathy and developmental encephalopathy literature review and own observations |
| topic | epileptic encephalopathy developmental encephalopathy early epileptic encephalopathy cdkl5 gene epilepsy clinical manifestations diagnosis therapy |
| url | https://rjdn.abvpress.ru/jour/article/view/360 |
| work_keys_str_mv | AT kyumukhin geneticepilepsycausedbycdkl5genemutationsasanexampleofepilepticencephalopathyanddevelopmentalencephalopathyliteraturereviewandownobservations AT oapylaeva geneticepilepsycausedbycdkl5genemutationsasanexampleofepilepticencephalopathyanddevelopmentalencephalopathyliteraturereviewandownobservations AT myubobylova geneticepilepsycausedbycdkl5genemutationsasanexampleofepilepticencephalopathyanddevelopmentalencephalopathyliteraturereviewandownobservations AT vachadaev geneticepilepsycausedbycdkl5genemutationsasanexampleofepilepticencephalopathyanddevelopmentalencephalopathyliteraturereviewandownobservations |