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Using induced pluripotent stem cells from DS patients and controls, the study differentiated iPS cells into neural-induced spheroids and applied synchrotron X-ray radiation to quantify elemental concentrations. DS-derived neural cells showed elevated potassium, copper, and zinc levels, suggesting elemental imbalance may contribute to DS pathogenesis.",{"@graph":69,"@context":122},[70,84,105],{"@type":71,"itemListElement":72},"BreadcrumbList",[73,77,79,82],{"item":74,"name":75,"@type":76,"position":8},"https://docshare.wps.com","Home","ListItem",{"item":78,"name":9,"@type":76,"position":14},"https://docshare.wps.com/document/",{"item":80,"name":35,"@type":76,"position":81},"https://docshare.wps.com/document/healthcare/",3,{"item":83,"name":65,"@type":76,"position":19},"https://docshare.wps.com/document/dravet-syndrome-patient-derived-neural-cells-present-altered-levels-of-potassium-copper-and-zinc/468796/",{"url":83,"name":65,"@type":85,"image":86,"author":91,"headline":65,"publisher":94,"fileFormat":97,"inLanguage":63,"description":67,"dateModified":98,"datePublished":99,"encodingFormat":97,"isAccessibleForFree":100,"interactionStatistic":101},"DigitalDocument",{"url":87,"@type":88,"width":89,"height":90},"https://docshare.wps.com/thumbnails/dravet-syndrome-patient-derived-neural-cells-present-altered-levels-of-potassium-copper-and-zinc/468796.png","ImageObject",300,407,{"name":92,"@type":93},"Melati","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-11-02","2026-09-30",true,{"@type":102,"interactionType":103,"userInteractionCount":34},"InteractionCounter",{"@type":104},"ViewAction",{"@type":106,"mainEntity":107},"FAQPage",[108,114,118],{"name":109,"@type":110,"acceptedAnswer":111},"What was the main objective of the study on Dravet syndrome cells?","Question",{"text":112,"@type":113},"To determine how loss of Nav1.1 function affects the elemental chemical constitution of DS patient-derived neural cells.","Answer",{"name":115,"@type":110,"acceptedAnswer":116},"How were the DS and control neural cells prepared for elemental analysis?",{"text":117,"@type":113},"iPS cells from DS patients and controls were differentiated into neural-induced spheroids, followed by synchrotron X-ray radiation to assess elemental concentration changes.",{"name":119,"@type":110,"acceptedAnswer":120},"What elemental differences were observed in DS-derived neural cells?",{"text":121,"@type":113},"DS-derived neural cells presented elevated potassium (K), copper (Cu), and zinc (Zn) compared with controls.","https://schema.org",{"og:url":83,"og:type":124,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":126,"canonical":83},"index,follow",{"doc_id":128,"site_id":62},468796,1791045916,{"code":4,"msg":5,"data":131},{"doc_id":128,"user_id":132,"nickname":92,"user_avatar":133,"doc_module":4,"category_id":34,"category_name":35,"doc_title":65,"doc_description":67,"doc_content":134,"file_id":135,"file_url":136,"file_type":137,"file_size":138,"view_count":34,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":34,"language":139,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":140,"faqs":141,"seo_title":142,"seo_description":67,"update_tm":143,"read_time":144,"preview_page_count":4},962085570644,"https://ap-avatar.wpscdn.com/davatar_994ba38a5ba835b3df7d355c54d3ed8d","This article is licensed under CC-BY 4.0   \n[pubs.acs.org/chemneuro](pubs.acs.org/chemneuro)  Research Article   \nDravet Syndrome Patient-Derived Neural Cells Present Altered Levels of Potassium, Copper, and Zinc  \nMariana P. Stelling, Rafaela C. Sartore, Gabriela L. Vitória, Sylvie Devalle, Marília Z. P. Guimar̃aes, Stevens K. Rehen, and Simone C. Cardoso *  \n Cite This: ACS Chem. Neurosci. 2026, 17, 308−314  \nRead Online  \n\n|  |  |  |  |  |  |\n| --- | --- | --- | --- | --- | --- |\n| ACCESS   | Metrics & More |  |  Article Recommendations |  | *sı Supporting Information |\n\nABSTRACT: Dravet syndrome (DS), also known as severe myoclonic epilepsy of infancy (SMEI), is an intractable epilepsy syndrome. Most cases are associated with mutations in the SCN1A gene, which is responsible for the expression of the sodium voltage-gated channel alpha subunit 1, Nav1.1. These mutations lead to altered neuronal firing and a state of hyperexcitability. DS has been studied using patient samples, animal models, and more recently, iPS cells derived from DS patients. In this work, we sought to understand the impact that Nav1.1 loss-of-function has on the elementary chemical constitution of DS patient-derived neural cells. iPS cells from DS patients and controls were differentiated into neural-induced spheroids, and synchrotron X-ray radiation was used to assess alterations in their elemental  \nconcentration. We observed that DS-derived neural cells present elevated levels of potassium (K), copper (Cu), and zinc (Zn). These findings suggest that an elemental imbalance may be involved in the pathogenesis of DS, as higher levels of K, Cu, and Zn have been implicated in seizure episodes and epilepsy. We conclude that modeling DS using cell reprogramming is a relevant approach to understanding the basic mechanisms involved in this disease and perhaps provide novel treatment strategies. KEYWORDS: Dravet syndrome (DS), Nav1.1 loss-of-function, elemental imbalance, iPS cells, synchrotron X-ray radiation  \n1. INTRODUCTION  \nDravet syndrome (DS) is a genetic pediatric epileptic syndrome also known as severe myoclonic epilepsy of infancy (SMEI), which begins in early childhood and results in a high mortality rate (up to 15%) and severe cognitive and neurological sequelae, 1 in addition to motor impairment.2 Most cases are associated with mutations in the α-subunit of the neuronal sodium channel Nav1.1 gene (SCN1A) .3,4 Previous studies have shown that Nav1.1 channels are mostly expressed in the central nervous system, especially in GABAergic hippocampal interneurons.5−7 Currently, advanced treatments using the CRISPR technique or targeting the splicing of the SCN1A gene are being considered for more effective treatments, because to this day the aim is focused in controlling seizures.2,8 Loss-of-function mutations in Nav1.1 channels lead to altered neuronal firing,9 culminating in a state of hyperexcitability. Abnormal neuronal firing may arise from, or be worsened by, mutated ion channels, such as Nav1.1 in DS. One mutated channel not only affects its own permeant ion, but also, overall elemental distribution, as neural tissue ionic equilibrium is finely controlled.10, 11 Different types of epilepsy are profoundly associated with elemental imbalance,12 since changes in the concentration of one ion can affect others. There is sparse data regarding elemental distribution in DS tissues, nevertheless, the impact of changes in a few elements such as calcium, zinc, copper, and magnesium has been  \ndescribed in other types of epileptic syndromes.13, 14 Most of that evidence is based on serum analyses of patients under treatment, which confounds data interpretation. Therefore, it is important to develop cellular models not only to test novel drugs and treatment strategies, but also to emulate tissues under untreated conditions. Our group aimed to specifically investigate elemental distribution in DS using induced pluripotent stem cells differentiated into neural c","cbCaideZGkR3pHqG","https://ap.wps.com/l/cbCaideZGkR3pHqG","pdf",5081313,"English","# Abstract\n# Introduction\n# Materials and Methods\n## Cell Lines, Embryoid Body Formation, and Neural Induction","[{\"question\":\"What was the main objective of the study on Dravet syndrome cells?\",\"answer\":\"To determine how loss of Nav1.1 function affects the elemental chemical constitution of DS patient-derived neural cells.\"},{\"question\":\"How were the DS and control neural cells prepared for elemental analysis?\",\"answer\":\"iPS cells from DS patients and controls were differentiated into neural-induced spheroids, followed by synchrotron X-ray radiation to assess elemental concentration changes.\"},{\"question\":\"What elemental differences were observed in DS-derived neural cells?\",\"answer\":\"DS-derived neural cells presented elevated potassium (K), copper (Cu), and zinc (Zn) compared with controls.\"}]","Dravet Syndrome Patient-Derived Neural Cells Present Altered Levels of Potassium, Copper, and Zinc | PDF",1790774690,18]