SPTAN1-associated developmental and epileptic encephalopathy
T. V. Kozhanova,
S. S. Zhilina,
T. I. Meshcheryakova,
E. G. Lukyanova,
E. S. Bolshakova,
S. O. Ayvazyan,
K. V. Osipova,
P. A. Vlasov,
A. I. Krapivkin,
N. N. Zavadenko https://doi.org/10.17749/2077-8333/epi.par.con.2023.150
Abstract
The article presents the clinical cases of 6 patients with epilepsy, psychomotor and speech developmental delay. The heterozygous variants of the nucleotide sequence in SPTAN1 gene were detected by whole exome sequencing. Mutations in SPTAN1 gene have been described in patients with developmental and epileptic encephalopathy 5 (ОMIM: 613477). The clinical history, electroencephalographic and magnetic resonance imaging data of our patients are similar in children with variants in SPTAN1 gene described previously. It was shown that variants in SPTAN1 gene located closer to the C-terminal region are associated with a more severe phenotype, whereas the variants near the N-region – with a milder course of the disease without structural brain anomalies. However, further research is necessary in the future to better understand genotype-phenotypic correlations in SPTAN1-associated encephalopathy.
About the Authors
T. V. Kozhanova
Pirogov Russian National Research Medical University; Voyno-Yasenetsky Scientific and Practical Center of Spicialized Medical Care for Children
Russian Federation
Russian Federation
Tatyana V. Kozhanova – MD, PhD, Associate Professor, Chair of Neurology, Neurosurgery and Medical Genetics, Faculty of Pediatrics; Laboratory Geneticist, Leading Researcher, Genetic Group, Scientific Department
Moscow
S. S. Zhilina
Pirogov Russian National Research Medical University; Voyno-Yasenetsky Scientific and Practical Center of Spicialized Medical Care for Children
Russian Federation
Russian Federation
Svetlana S. Zhilina – MD, PhD, Associate Professor, Chair of Neurology, Neurosurgery and Medical Genetics, Faculty of Pediatrics; Geneticist, Leading Researcher, Genetic Group, Scientific Department
Moscow
T. I. Meshcheryakova
Voyno-Yasenetsky Scientific and Practical Center of Spicialized Medical Care for Children
Russian Federation
Russian Federation
Tatyana I. Meshcheryakova – MD, PhD, Geneticist, Leading Researcher, Genetic Group, Scientific Department
Moscow
E. G. Lukyanova
Voyno-Yasenetsky Scientific and Practical Center of Spicialized Medical Care for Children
Russian Federation
Russian Federation
Ekaterina G. Lukyanova – Neurologist
Moscow
E. S. Bolshakova
Voyno-Yasenetsky Scientific and Practical Center of Spicialized Medical Care for Children
Russian Federation
Russian Federation
Ekaterina S. Bolshakova – Neurologist
Moscow
S. O. Ayvazyan
Voyno-Yasenetsky Scientific and Practical Center of Spicialized Medical Care for Children
Russian Federation
Russian Federation
Sergey O. Ayvazyan – MD, PhD, Leading Researcher, Genetic Group, Scientific Department
Moscow
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
Moscow
P. A. Vlasov
Burdenko National Medical Research Center for Neurosurgery
Russian Federation
Russian Federation
Pavel A. Vlasov – Neurologist
Moscow
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
Moscow
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
Moscow
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Review
For citations:
Kozhanova T.V., Zhilina S.S., Meshcheryakova T.I., Lukyanova E.G., Bolshakova E.S., Ayvazyan S.O., Osipova K.V., Vlasov P.A., Krapivkin A.I., Zavadenko N.N. SPTAN1-associated developmental and epileptic encephalopathy. Epilepsy and paroxysmal conditions. 2023;15(3):246–259. (In Russ.) https://doi.org/10.17749/2077-8333/epi.par.con.2023.150
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