Clinical Spectrum of Voltage-gated Sodium Channelopaties; One-center Experience
HALE Atalay CELİK, Abdullah Sezer, Ulkuhan Oztoprak, Erhan Aksoy, Deniz Yuksel
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.
Keywords: Voltage-gated Sodium channel, epilepsy
HALE Atalay CELİK
University of Health Sciences Turkey, Dr Sami Ulus Maternity and Child Health and Diseases Research and Training Hospital
Turkey
Abdullah Sezer
University of Health Sciences Turkey, Dr Sami Ulus Maternity and Child Health and Diseases Research and Training Hospital
Turkey
Ulkuhan Oztoprak
University of Health Sciences Turkey, Dr Sami Ulus Maternity and Child Health and Diseases Research and Training Hospital
Turkey
Erhan Aksoy
University of Health Sciences Turkey, Dr Sami Ulus Maternity and Child Health and Diseases Research and Training Hospital
Turkey
Deniz Yuksel
University of Health Sciences Turkey, Dr Sami Ulus Maternity and Child Health and Diseases Research and Training Hospital
Turkey
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.
Keywords: Voltage-gated Sodium channel, epilepsy
HALE Atalay CELİK
University of Health Sciences Turkey, Dr Sami Ulus Maternity and Child Health and Diseases Research and Training Hospital
Turkey
Abdullah Sezer
University of Health Sciences Turkey, Dr Sami Ulus Maternity and Child Health and Diseases Research and Training Hospital
Turkey
Ulkuhan Oztoprak
University of Health Sciences Turkey, Dr Sami Ulus Maternity and Child Health and Diseases Research and Training Hospital
Turkey
Erhan Aksoy
University of Health Sciences Turkey, Dr Sami Ulus Maternity and Child Health and Diseases Research and Training Hospital
Turkey
Deniz Yuksel
University of Health Sciences Turkey, Dr Sami Ulus Maternity and Child Health and Diseases Research and Training Hospital
Turkey
HALE Atalay CELİK
University of Health Sciences Turkey, Dr Sami Ulus Maternity and Child Health and Diseases Research and Training Hospital Turkey
University of Health Sciences Turkey, Dr Sami Ulus Maternity and Child Health and Diseases Research and Training Hospital Turkey