Improvement on BAF53B mutation caused developmental and epileptic encephalopathy with a ketogenic diet

Improvement on BAF53B mutation caused developmental and epileptic encephalopathy with a ketogenic diet | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Brief Communication Improvement on BAF53B mutation caused developmental and epileptic encephalopathy with a ketogenic diet Danli Wang, Yang Liu, Linlin Fan, Haoying Yang, Mingming Pan, and 4 more This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-1921317/v1 This work is licensed under a CC BY 4.0 License Status: Posted Version 1 posted You are reading this latest preprint version Abstract Genetic mutation is the leading cause of Developmental and Epileptic Encephalopathy (DEE, OMIM 308350), a spectrum of disorders characterized by severe epilepsy and usually begins in infancy, accompanied with psychomotor development arrest and hypsarrhythmia on electroencephalogram (EEG). Up till now, mutations of 101 genes were confirmed as the cause of DEE, and were categorized accordingly into 101 different sub-types (DEE1-101). These genes encode membrane receptors, ion channels, ATP transports and involved in neurotransmitter synthesis etc. Here we report a DEE76 case caused by biallelic BAF53B mutation inherited in an autosomal recessive manner. Seizures commenced on day five and rapidly deteriorated. Patient’s brain magnetic resonance imaging (MRI) revealed rare structural abnormalities, and the EEG confirmed severe epileptiform abnormalities. After a series of therapeutic exploration, the patient has currently followed a ketogenic diet combined treatment, and the DEE associated symptom is now under control. By far most types of DEE still lack of sufficient investigation of their underlying mechanisms and treatment approaches are urgently to be explored. Gene therapy could shed light on rare diseases, yet incompetent to those remain unknown. Here we report a case of DEE76 induced by BAF53B mutations and highlighted the therapeutic potential of ketogenic diet, hoping to enlighten more interest in this field in the future. Full Text Additional Declarations There is no duality of interest Cite Share Download PDF Status: Posted Version 1 posted You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. We do this by developing innovative software and high quality services for the global research community. Our growing team is made up of researchers and industry professionals working together to solve the most critical problems facing scientific publishing. Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-1921317","acceptedTermsAndConditions":true,"allowDirectSubmit":true,"archivedVersions":[],"articleType":"Brief Communication","associatedPublications":[],"authors":[{"id":129970123,"identity":"a9b8f7f4-d1b0-4f8f-a38a-f447f769d00a","order_by":0,"name":"Danli 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Up till now, mutations of 101 genes were confirmed as the cause of DEE, and were categorized accordingly into 101 different sub-types (DEE1-101). These genes encode membrane receptors, ion channels, ATP transports and involved in neurotransmitter synthesis etc. Here we report a DEE76 case caused by biallelic BAF53B mutation inherited in an autosomal recessive manner. Seizures commenced on day five and rapidly deteriorated. Patient’s brain magnetic resonance imaging (MRI) revealed rare structural abnormalities, and the EEG confirmed severe epileptiform abnormalities. After a series of therapeutic exploration, the patient has currently followed a ketogenic diet combined treatment, and the DEE associated symptom is now under control. By far most types of DEE still lack of sufficient investigation of their underlying mechanisms and treatment approaches are urgently to be explored. Gene therapy could shed light on rare diseases, yet incompetent to those remain unknown. 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