SEMA6B-related progressive myoclonus epilepsy in a patient with Klinefelter syndrome-Reference-Cited by-同舟云学术

SEMA6B-related progressive myoclonus epilepsy in a patient with Klinefelter syndrome

Published:2024-04-16 Issue:1 Volume:16 Page:45-53
ISSN:2311-4088
Container-title:Epilepsy and paroxysmal conditions
language:
Short-container-title:Èpilepsiâ paroksizmalʹnye sostoâ.

Author:

Kozhanova T. V.¹^ORCID,Zhilina S. S.¹^ORCID,Meshcheryakova T. I.¹^ORCID,Sushko L. M.²^ORCID,Osipova K. V.²^ORCID,Mazur A. M.³,Fomenko S. S.³,Krapivkin A. I.²^ORCID,Zavadenko N. N.⁴^ORCID

Affiliation:

1. Voyno-Yasenetsky Scientific and Practical Center of Spicialized Medical Care for Children; Pirogov Russian National Research Medical University

2. Voyno-Yasenetsky Scientific and Practical Center of Spicialized Medical Care for Children

3. Genoanalytica LLC

4. Pirogov Russian National Research Medical University

Abstract

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 SEMA6B gene contribute to production of aberrant proteins with “toxic” functions. A clinical case of status epilepsy in a patient with a variant in the SEMA6B gene (c.2506delС; p.His836ThrfsTer136; NM_032108.4) is described in the article that expands our knowledge regarding the SEMA6B gene variants resulting in progressive myoclonus epilepsy.

Publisher

IRBIS

Reference10 articles.

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