<i>SEMA6B</i>-related progressive myoclonus epilepsy in a patient with Klinefelter syndrome

<i>SEMA6B</i>-related progressive myoclonus epilepsy in a patient with Klinefelter syndrome

In most cases, variants of nucleotide sequence in the SEMA6B gene account for developing the phenotype of progressive myoclonus epilepsy and, to a lesser extent, developmental encephalopathy with or without epilepsy. Loss-of-function variants in nucleotide sequence localized mainly in exon 17 of the...

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Main Authors: T. V. Kozhanova, S. S. Zhilina, T. I. Meshcheryakova, L. M. Sushko, K. V. Osipova, A. M. Mazur, S. S. Fomenko, A. I. Krapivkin, N. N. Zavadenko
Format: Article
Language:Russian
Published: IRBIS LLC 2024-04-01
Series:Эпилепсия и пароксизмальные состояния
Subjects:
epilepsy
<i>sema6b</i> gene
klinefelter syndrome
whole exome sequencing
Online Access:https://www.epilepsia.su/jour/article/view/996
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https://www.epilepsia.su/jour/article/view/996

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