SEMA6B-related progressive myoclonus epilepsy in a patient with Klinefelter syndrome
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 https://doi.org/10.17749/2077-8333/epi.par.con.2024.175
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.
About the Authors
T. V. Kozhanova
Voyno-Yasenetsky Scientific and Practical Center of Spicialized Medical Care for Children; Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Tatyana V. Kozhanova – MD, PhD, Leading Researcher, Laboratory Geneticist; Associate Professor, Chair of Neurology, Neurosurgery and Medical Genetics, Faculty of Pediatrics
38 Aviators Str., Moscow 119620, Russia
1 Ostrovityanov Str., Moscow 117997, Russia
S. S. Zhilina
Voyno-Yasenetsky Scientific and Practical Center of Spicialized Medical Care for Children; Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Svetlana S. Zhilina – MD, PhD, Leading Researcher, Geneticist; Associate Professor, Chair of Neurology, Neurosurgery and Medical Genetics, Faculty of Pediatrics
38 Aviators Str., Moscow 119620, Russia
1 Ostrovityanov Str., Moscow 117997, Russia
T. I. Meshcheryakova
Voyno-Yasenetsky Scientific and Practical Center of Spicialized Medical Care for Children; Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Tatiana I. Meshcheryakova – MD, PhD, Leading Researcher, Geneticist; Associate Professor, Chair of General and Medical Genetics, Faculty of Medicine and Biology
38 Aviators Str., Moscow 119620, Russia
1 Ostrovityanov Str., Moscow 117997, Russia
L. M. Sushko
Voyno-Yasenetsky Scientific and Practical Center of Spicialized Medical Care for Children
Russian Federation
Russian Federation
Lilia M. Sushko – Neurologist
38 Aviators Str., Moscow 119620, Russia
K. V. Osipova
Voyno-Yasenetsky Scientific and Practical Center of Spicialized Medical Care for Children
Russian Federation
Russian Federation
Karina V. Osipova – MD, PhD, Head of Neuropsychiatric Department
38 Aviators Str., Moscow 119620, Russia
A. M. Mazur
Genoanalytica LLC
Russian Federation
Russian Federation
Aleksandr M. Mazur – PhD (Phys.-Math.), Director For Science
est. 1 bldg. 77 Leninskie Gory, Moscow 119234, Russia
S. S. Fomenko
Genoanalytica LLC
Russian Federation
Russian Federation
Sergey S. Fomenko – Bioinformatics Specialist
est. 1 bldg. 77 Leninskie Gory, Moscow 119234, Russia
A. I. Krapivkin
Voyno-Yasenetsky Scientific and Practical Center of Spicialized Medical Care for Children
Russian Federation
Russian Federation
Alexey I. Krapivkin – Dr. Med. Sc., Director
38 Aviators Str., Moscow 119620, Russia
N. N. Zavadenko
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Nikolay N. Zavadenko – Dr. Med. Sc., Professor, Chief of Chair of Neurology, Neurosurgery and Medical Genetics, Faculty of Pediatrics
1 Ostrovityanov Str., Moscow 117997, Russia
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Review
For citations:
Kozhanova T.V., Zhilina S.S., Meshcheryakova T.I., Sushko L.M., Osipova K.V., Mazur A.M., Fomenko S.S., Krapivkin A.I., Zavadenko N.N. SEMA6B-related progressive myoclonus epilepsy in a patient with Klinefelter syndrome. Epilepsy and paroxysmal conditions. 2024;16(1):45-53. (In Russ.) https://doi.org/10.17749/2077-8333/epi.par.con.2024.175
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