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Clinical Spectrum of Voltage-gated Sodium Channelopaties; One-center Experience

Introduction: Voltage-gated sodium channels(VGSC) can be found mainly in the central nervous system(CNS), peripheral nervous system(PNS), skeletal and cardiac muscles. In this study, we aimed to describe the clinical spectrum of voltage-gated sodium channelopathies in our patients. Method: We investigated the patients’ recordings, in University of Health Sciences Turkey, Dr Sami Ulus Maternity and Child Health Diseases Training & Research Hospital, retrospectively. Results: We identified 22 patients with VGSC mutations. The most common mutation was SCN1A(68% n:15) and phenotype was Dravet Syndrome(40% n:9). In addition, SCN1B(n:2), SCN3A(n:2), SCN4A(n:1), SCN8A(n:1) and SCN9A(n:1) were detected(figure1). Clinically, developmental and epileptic encephalopathy(n:5), GEFS+(n:4), complicated febrile convulsion(n:1), epilepsy(n:1)and paramyotonia(n:1) were identified. Although, 6 of them were genetically benign/variant of uncertain significance(VUS), they were clinically compatible with the mutations. Developmental milesotones were delayed/regressed in the majority of cases(n:17), however 5 of them were developmentally normal. Accompanying disorders were spesific learning disability, attention deficit and hyperactivity disorder and autism spectrum disorder. Conclusion: With the clinical and genetic characteristics of VGSC described in the literature, recognising the spectrum of this disease is important for a targeted treatment plan.