<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: | , , , , , , , , |
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Format: | Article |
Language: | Russian |
Published: |
IRBIS LLC
2024-04-01
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Series: | Эпилепсия и пароксизмальные состояния |
Subjects: | |
Online Access: | https://www.epilepsia.su/jour/article/view/996 |
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