<i>SPTAN1</i>-associated developmental and epileptic encephalopathy-Reference-Cited by-同舟云学术

<i>SPTAN1</i>-associated developmental and epileptic encephalopathy

Published:2023-09-26 Issue:3 Volume:15 Page:246-259
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.²^ORCID,Lukyanova E. G.²^ORCID,Bolshakova E. S.²,Ayvazyan S. O.²^ORCID,Osipova K. V.²^ORCID,Vlasov P. A.³^ORCID,Krapivkin A. I.²^ORCID,Zavadenko N. N.⁴^ORCID

Affiliation:

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

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

3. Burdenko National Medical Research Center for Neurosurgery

4. Pirogov Russian National Research Medical University

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.

Publisher

IRBIS

Subject

Neurology (clinical),Neurology

Reference16 articles.

1. Berg A.T., Berkovic S.F., Brodie M.J., et al. Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005– 2009. Epilepsia. 2010; 51: 676–85. https://doi.org/10.1111/j.15281167.2010.02522.x.

2. Radaelli G., de Souza Santos F., Borelli W.V., et al. Causes of mortality in early infantile epileptic encephalopathy: a systematic review. Epilepsy Behav. 2018; 85: 32–6. https://doi.org/10.1016/j.yebeh.2018.05.015.

3. Pavone P., Corsello G., Ruggieri M., et al. Benign and severe early-life seizures: a round in the first year of life. Ital J Pediatr. 2018; 44 (1): 54. https://doi.org/10.1186/s13052-018-0491-z.

4. Nieh S.E., Sherr E.H. Epileptic encephalopathies: new genes and new pathways. Neurotherapeutics. 2014; 11 (4): 796–806. https://doi.org/10.1007/s13311-014-0301-2.

5. Zhang R., Zhang C., Zhao Q., Li D. Spectrin: structure, function and disease. Sci China Life Sci. 2013; 56 (12): 1076–85. https://doi.org/10.1007/s11427-013-4575-0.