<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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