Clinical and genetic characteristics of the early 66th type epileptic encephalopathy (literature review and own observation)
Early epileptic encephalopathy-66 was first diagnosed in a male patient from Russia using whole-exome sequencing. Early epileptic encephalopathy- 66 is a unique disorder in the group of early epileptic encephalopathies. The same recurrent heterozygous variant of the nucleotide sequence was found in...
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| Format: | Article |
| Language: | Russian |
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ABV-press
2020-06-01
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| Series: | Нервно-мышечные болезни |
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| Online Access: | https://nmb.abvpress.ru/jour/article/view/377 |
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| author | T. V. Markova A. O. Borovikov E. R. Lozier A. A. Isaev V. S. Kaimonov E. A. Pomerantseva F. A. Konovalov O. A. Schagina E. L. Dadali |
| author_facet | T. V. Markova A. O. Borovikov E. R. Lozier A. A. Isaev V. S. Kaimonov E. A. Pomerantseva F. A. Konovalov O. A. Schagina E. L. Dadali |
| author_sort | T. V. Markova |
| collection | DOAJ |
| description | Early epileptic encephalopathy-66 was first diagnosed in a male patient from Russia using whole-exome sequencing. Early epileptic encephalopathy- 66 is a unique disorder in the group of early epileptic encephalopathies. The same recurrent heterozygous variant of the nucleotide sequence was found in all known patients, but the severity of seizures and dysmorphic signs significantly vary between patients. The current study of a recurrent pathogenic variant in PACS2 gene expands the phenotype spectrum of early epileptic encephalopathy-66 and will improve the management of patients with that disorder in Russia in the future. |
| format | Article |
| id | doaj-art-067d3879698e4e9286daa9040edeb061 |
| institution | Kabale University |
| issn | 2222-8721 2413-0443 |
| language | Russian |
| publishDate | 2020-06-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Нервно-мышечные болезни |
| spelling | doaj-art-067d3879698e4e9286daa9040edeb0612025-08-20T04:00:03ZrusABV-pressНервно-мышечные болезни2222-87212413-04432020-06-01101889210.17650/2222-8721-2020-10-1-88-92264Clinical and genetic characteristics of the early 66th type epileptic encephalopathy (literature review and own observation)T. V. Markova0A. O. Borovikov1E. R. Lozier2A. A. Isaev3V. S. Kaimonov4E. A. Pomerantseva5F. A. Konovalov6O. A. Schagina7E. L. Dadali8Research Center of Medical Genetics named after academician N. P. BochkovResearch Center of Medical Genetics named after academician N. P. BochkovIndependent Clinical Bioinformatics LaboratoryCenter for Genetics and Reproductive Medicine “Genetico”Center for Genetics and Reproductive Medicine “Genetico”Center for Genetics and Reproductive Medicine “Genetico”Independent Clinical Bioinformatics LaboratoryResearch Center of Medical Genetics named after academician N. P. BochkovResearch Center of Medical Genetics named after academician N. P. BochkovEarly epileptic encephalopathy-66 was first diagnosed in a male patient from Russia using whole-exome sequencing. Early epileptic encephalopathy- 66 is a unique disorder in the group of early epileptic encephalopathies. The same recurrent heterozygous variant of the nucleotide sequence was found in all known patients, but the severity of seizures and dysmorphic signs significantly vary between patients. The current study of a recurrent pathogenic variant in PACS2 gene expands the phenotype spectrum of early epileptic encephalopathy-66 and will improve the management of patients with that disorder in Russia in the future.https://nmb.abvpress.ru/jour/article/view/377epileptic encephalopathypacs2 geneexome sequencing |
| spellingShingle | T. V. Markova A. O. Borovikov E. R. Lozier A. A. Isaev V. S. Kaimonov E. A. Pomerantseva F. A. Konovalov O. A. Schagina E. L. Dadali Clinical and genetic characteristics of the early 66th type epileptic encephalopathy (literature review and own observation) Нервно-мышечные болезни epileptic encephalopathy pacs2 gene exome sequencing |
| title | Clinical and genetic characteristics of the early 66th type epileptic encephalopathy (literature review and own observation) |
| title_full | Clinical and genetic characteristics of the early 66th type epileptic encephalopathy (literature review and own observation) |
| title_fullStr | Clinical and genetic characteristics of the early 66th type epileptic encephalopathy (literature review and own observation) |
| title_full_unstemmed | Clinical and genetic characteristics of the early 66th type epileptic encephalopathy (literature review and own observation) |
| title_short | Clinical and genetic characteristics of the early 66th type epileptic encephalopathy (literature review and own observation) |
| title_sort | clinical and genetic characteristics of the early 66th type epileptic encephalopathy literature review and own observation |
| topic | epileptic encephalopathy pacs2 gene exome sequencing |
| url | https://nmb.abvpress.ru/jour/article/view/377 |
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