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

Epilepsy and paroxysmal conditions
Èpilepsiâ i paroksizmalʹnye sostoâniâ

ISSN 2077-8333 (Print)
ISSN 2311-4088 (Online)

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Epilepsy and paroxysmal conditions

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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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ISSN 2077-8333 (Print)
ISSN 2311-4088 (Online)

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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

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

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

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

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

Karina V. Osipova – MD, PhD, Head of Neuropsychiatric Department

38 Aviators Str., Moscow 119620, Russia

A. M. Mazur
Genoanalytica LLC
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

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

Alexey I. Krapivkin – Dr. Med. Sc., Director

38 Aviators Str., Moscow 119620, Russia

N. N. Zavadenko
Pirogov Russian National Research Medical University
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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Epilepsy and paroxysmal conditions

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