Email this article Clinical and genetic characteristics of the early 66th type epileptic encephalopathy (literature review and own observation)
- Authors: Markova T.V.1, Borovikov A.O.1, Lozier E.R.2, Isaev A.A.3, Kaimonov V.S.3, Pomerantseva E.A.3, Konovalov F.A.2, Schagina O.A.1, Dadali E.L.1
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Affiliations:
- Research Center of Medical Genetics named after academician N. P. Bochkov
- Independent Clinical Bioinformatics Laboratory
- Center for Genetics and Reproductive Medicine “Genetico”
- Issue: Vol 10, No 1 (2020)
- Pages: 88-92
- Section: CLINICAL DISCUSSION
- Published: 03.06.2020
- URL: https://nmb.abvpress.ru/jour/article/view/377
- DOI: https://doi.org/10.17650/2222-8721-2020-10-1-88-92
- ID: 377
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Abstract
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.
Keywords
About the authors
T. V. Markova
Research Center of Medical Genetics named after academician N. P. Bochkov
Email: fake@neicon.ru
ORCID iD: 0000-0002-2672-6294
1 Moskvorech’e St., Moscow 115478, Russia Russian Federation
A. O. Borovikov
Research Center of Medical Genetics named after academician N. P. Bochkov
Email: fake@neicon.ru
ORCID iD: 0000-0001-5871-8005
1 Moskvorech’e St., Moscow 115478, Russia Russian Federation
E. R. Lozier
Independent Clinical Bioinformatics Laboratory
Email: fake@neicon.ru
ORCID iD: 0000-0003-2901-0539
Build. 1, 21 Katukova St., Moscow 123181, Russia Russian Federation
A. A. Isaev
Center for Genetics and Reproductive Medicine “Genetico”
Email: fake@neicon.ru
Build. 1, 3 Gubkina St., Moscow 119333, Russia Russian Federation
V. S. Kaimonov
Center for Genetics and Reproductive Medicine “Genetico”
Email: fake@neicon.ru
ORCID iD: 0000-0001-9024-0785
Build. 1, 3 Gubkina St., Moscow 119333, Russia Russian Federation
E. A. Pomerantseva
Center for Genetics and Reproductive Medicine “Genetico”
Email: fake@neicon.ru
Build. 1, 3 Gubkina St., Moscow 119333, Russia Russian Federation
F. A. Konovalov
Independent Clinical Bioinformatics Laboratory
Email: fake@neicon.ru
ORCID iD: 0000-0001-6414-436X
Build. 1, 21 Katukova St., Moscow 123181, Russia Russian Federation
O. A. Schagina
Research Center of Medical Genetics named after academician N. P. Bochkov
Email: fake@neicon.ru
ORCID iD: 0000-0003-4905-1303
Moskvorech’e St., Moscow 115478, Russia Russian Federation
E. L. Dadali
Research Center of Medical Genetics named after academician N. P. Bochkov
Author for correspondence.
Email: genclinic@yandex.ru
ORCID iD: 0000-0001-5602-2805
Moskvorech’e St., Moscow 115478, Russia Russian Federation
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