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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Main Authors: 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
Formato: Artigo
Idioma:Russo
Publicado em: ABV-press 2020-06-01
Colecção:Nervno-Myšečnye Bolezni
Assuntos:
epileptic encephalopathy
pacs2 gene
exome sequencing
Acesso em linha:https://nmb.abvpress.ru/jour/article/view/377
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