Solute Carrier Transport Disease - A Rare Case Report

Akshita Kansal, Abhijit Shinde, Suresh Waydande
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Abstract

The International Society for the Prevention of Epilepsy revised the classification in 2017, changing "encephalic encephalitis" to "encephalic developmental encephalitis". With the advancement of genetic technology, the number of genes that cause brain damage and the development of epileptic brain disease is increasing. Among these, the failure of the carrier to function is part of the etiology of developmental and mental diseases. Solute transporters play important physiological functions in the human body, and their dysfunction is associated with many human diseases. Therefore, in-depth studies of the development of infectious diseases and brain damage may help develop new therapies to improve the treatment of refractory epileptics and improve the patient's prognosis. In this article, the concept of transport chain is introduced for the first time and 9 brain development and brain diseases that occur as a result of malfunction of the transport chain are explained in terms of etiology, clinical features, diagnosis and correct treatment. Keywords: Transport disease, epileptic encephalopathy, developmental encephalopathy, transporter protein, epilepsy
溶质载体转运疾病--罕见病例报告
国际癫痫预防学会于2017年修订了这一分类,将 "脑炎 "改为 "发育性脑炎"。随着基因技术的发展,导致脑损伤和脑癫痫发病的基因越来越多。其中,载体功能失效是发育性疾病和精神疾病的病因之一。溶质转运体在人体内发挥着重要的生理功能,其功能障碍与许多人类疾病有关。因此,深入研究感染性疾病和脑损伤的发生发展,有助于开发新的疗法,改善难治性癫痫患者的治疗,改善患者的预后。本文首次提出了转运链的概念,并从病因、临床特征、诊断和正确治疗等方面阐述了9种脑发育和因转运链功能失常而发生的脑疾病:转运疾病 癫痫性脑病 发育性脑病 转运体蛋白 癫痫
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