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Article

SCN1A—Characterization of the Gene’s Variants in the Polish Cohort of Patients with Dravet Syndrome: One Center Experience

by
Elżbieta Stawicka
1,*,
Anita Zielińska
2,*,
Paulina Górka-Skoczylas
2,
Karolina Kanabus
2,
Renata Tataj
2,
Tomasz Mazurczak
1 and
Dorota Hoffman-Zacharska
2
1
Clinic of Paediatric Neurology, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland
2
Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland
*
Authors to whom correspondence should be addressed.
Curr. Issues Mol. Biol. 2024, 46(5), 4437-4451; https://doi.org/10.3390/cimb46050269
Submission received: 30 March 2024 / Revised: 21 April 2024 / Accepted: 26 April 2024 / Published: 7 May 2024
(This article belongs to the Section Molecular Medicine)

Abstract

The aim of this study was to characterize the genotype and phenotype heterogeneity of patients with SCN1A gene mutations in the Polish population, fulfilling the criteria for the diagnosis of Dravet syndrome (DRVT). Particularly important was the analysis of the clinical course, the type of epileptic seizures and the co-occurrence of additional features such as intellectual disability, autism or neurological symptoms such as ataxia or gait disturbances. Based on their results and the available literature, the authors discuss potential predictors for DRVT. Identifying these early symptoms has important clinical significance, affecting the course and disease prognosis. 50 patients of the Pediatric Neurology Clinic of the Institute of Mother and Child in Warsaw clinically diagnosed with DRVT and carriers of SCN1A pathogenic variants were included. Clinical data were retrospectively collected from caregivers and available medical records. Patients in the study group did not differ significantly in parameters such as type of first seizure and typical epileptic seizures from those described in other studies. The age of onset of the first epileptic seizure was 2–9 months. The co-occurrence of intellectual disability was confirmed in 71% of patients and autism in 18%. The study did not show a correlation between genotype and phenotype, considering the severity of the disease course, clinical symptoms, response to treatment, the presence of intellectual disability, autism symptoms or ataxia. From the clinical course, a significant problem was the differentiation between complex febrile convulsions and symptoms of DRVT. The authors suggest that parameters such as the age of the first seizure, less than one year of age, the onset of a seizure up to 72 h after vaccination and the presence of more than two features of complex febrile seizures are more typical of DRVT, which should translate into adequate diagnostic and clinical management. The substantial decrease in the age of genetic verification of the diagnosis, as well as the decline in the use of sodium channel inhibitors, underscores the growing attention of pediatric neurologists in Poland to the diagnosis of DRVT.
Keywords: SCN1A gene; Dravet syndrome; DRVT; genotype–phenotype correlation SCN1A gene; Dravet syndrome; DRVT; genotype–phenotype correlation

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MDPI and ACS Style

Stawicka, E.; Zielińska, A.; Górka-Skoczylas, P.; Kanabus, K.; Tataj, R.; Mazurczak, T.; Hoffman-Zacharska, D. SCN1A—Characterization of the Gene’s Variants in the Polish Cohort of Patients with Dravet Syndrome: One Center Experience. Curr. Issues Mol. Biol. 2024, 46, 4437-4451. https://doi.org/10.3390/cimb46050269

AMA Style

Stawicka E, Zielińska A, Górka-Skoczylas P, Kanabus K, Tataj R, Mazurczak T, Hoffman-Zacharska D. SCN1A—Characterization of the Gene’s Variants in the Polish Cohort of Patients with Dravet Syndrome: One Center Experience. Current Issues in Molecular Biology. 2024; 46(5):4437-4451. https://doi.org/10.3390/cimb46050269

Chicago/Turabian Style

Stawicka, Elżbieta, Anita Zielińska, Paulina Górka-Skoczylas, Karolina Kanabus, Renata Tataj, Tomasz Mazurczak, and Dorota Hoffman-Zacharska. 2024. "SCN1A—Characterization of the Gene’s Variants in the Polish Cohort of Patients with Dravet Syndrome: One Center Experience" Current Issues in Molecular Biology 46, no. 5: 4437-4451. https://doi.org/10.3390/cimb46050269

APA Style

Stawicka, E., Zielińska, A., Górka-Skoczylas, P., Kanabus, K., Tataj, R., Mazurczak, T., & Hoffman-Zacharska, D. (2024). SCN1A—Characterization of the Gene’s Variants in the Polish Cohort of Patients with Dravet Syndrome: One Center Experience. Current Issues in Molecular Biology, 46(5), 4437-4451. https://doi.org/10.3390/cimb46050269

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