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program for kids with rare genetic epilepsy</span> </a> </li> </ol> </div> <div class="blogs-content container"> <div class="blogs-content-main w-full"> <div class="blogs-hero mb-6"> <div class="blogs-hero-image"> <img src="/contentassets/81a2b00b37c74bdbb84a9ec27f1b3faf/arcuate_article_hero_syngap.jpg" alt="" /> </div> </div> <div class="blogs-container"> <div class="blogs-heading"> <h1 class="blogs-heading-title"> New research program for kids with rare genetic epilepsy </h1> <div class="blogs-heading-date"> <span class="blogs-heading-category" style="color:"> News and Announcements, </span> <span class="blogs-heading-category" style="color:"> Innovative Care, </span> <span class="blogs-heading-category" style="color:"> Neuroscience Research, </span> <span class="blogs-heading-category" style="color:"> Patient Families </span> | February 10, 2022 | cookchildrens </div> <h2 class="blogs-heading-subtitle"> </h2> </div> <div class="blogs-content-main-set"> <div class="rich-text"><p>Cook Children's Neurosciences Research department launched a new program in January 2022 to help children with SYNGAP-1, a rare form of genetic epilepsy.</p> <p>SYNGAP1-related non-syndromic intellectual disability is a rare genetic disorder caused by a variant of the SYNGAP1 gene. The gene is located on Chromosome 6 and is responsible for producing the SYNGAP protein, which acts as a regulator in the synapses. Patients who suffer from this disorder often have intellectual disability, hypotonia, global developmental delay and epilepsy.</p> <p>This new program solicits a novel exploratory idea that proposes the development of a non-invasive biomarker, which will assess the levels of gamma-aminobutyric acid (GABA) in the brain of patients with SYNGAP1.</p> <p>Such a biomarker may help us better understand the pathophysiological mechanisms of GABA functional dysfunction in the brain of patients with SYNGAP1, and potentially guide the development of new therapies for children who suffer from SYNGAP and other genetic disorders. This program will be led by Christos Papadelis, Ph.D., and M. Scott Perry, M.D., and generously supported by Jeanie and Ken Huffman of Fort Worth, Texas.</p> <div class="bg-shade p-2 rounded"> <h2>Contributing staff</h2> <figure><img src="/siteassets/images/specialties/neurology/neuro-research/christos-papdelis.jpg" alt="christos-papdelis" width="181" height="204"></figure> <h4>Christos Papadelis, PhD<br><em>Director of Research</em><br>Neurosciences Research</h4> <p><a title="Meet Dr. Papadelis" href="https://www.cookchildrens.org/services/neurosciences-research/team/" rel="noreferrer noopener">Meet Dr. Papadelis</a></p> </div> <h2>Related programs</h2> <p><a href="https://www.cookchildrens.org/services/neurosciences/clinics/genetic-epilepsy-clinic/">Genetic epilepsy program</a>, <a href="https://www.cookchildrens.org/services/neurosciences-research/">Neurosciences Research</a></p></div> </div> </div> </div> <div class="blogs-content-side"> <div class="rich-text "> <div class="rich-text"><p><a class="score-button primary" title="Consultations and Referrals 682-885-2500" href="tel:+1-682-885-2500" target="_blank" rel="noopener">Consultations and Referrals <br /><span style="white-space: nowrap;">682-885-2500</span></a></p></div> </div> </div> </div> <div class="blogs-content-bottom mb-4"> <section class="score-stripe mb-14 default" style="" data-epi-type="content"> <div class="container"> <div class="w-full"> <div class="content-area"> </div> </div> </div> </section> </div> </div> <script type="application/ld+json"> { "@context": "http://schema.org", "@type": "BlogPosting", "mainEntityOfPage": { "@type": "WebPage", "@id": "https://www.arcuate.org/syngap-program" }, "headline": "New research program for kids with rare genetic epilepsy – The Arcuate – Neuroscience News", "description": "SYNGAP1-related non-syndromic intellectual disability is a rare genetic disorder caused by a variant of the SYNGAP1 gene.", "image": { "@type": "ImageObject", "url": "https://www.arcuate.org/contentassets/81a2b00b37c74bdbb84a9ec27f1b3faf/arcuate_article_hero_syngap.jpg", "width": "", "height": "" }, "author": { "@type": "Organization", "name": "Cook Childrens" }, "publisher": { "@type": "Organization", "name": "Cook Childrens", "logo": { "@type": "ImageObject", "url": "https://www.arcuate.org/", "width": "", "height": "" } }, "datePublished": "2022-02-10" }; </script> </main> <script defer="defer" src="/Util/Find/epi-util/find.js"></script> <script> document.addEventListener('DOMContentLoaded',function(){if(typeof FindApi === 'function'){var api = new FindApi();api.setApplicationUrl('/');api.setServiceApiBaseUrl('/find_v2/');api.processEventFromCurrentUri();api.bindWindowEvents();api.bindAClickEvent();api.sendBufferedEvents();}}) </script> </main> <footer class="footer" > <div class="footer-wrapper bg-lightgrey"> <div data-react-component="FooterNavigation" data-props='{"upperFooter":{},"lowerFooter":{"socialButtons":[],"copywriteText":"CookChildren\u0027s Health Care System"},"topBorderColor":"#F99D20"}'></div> <div class="middle-footer"> <div class="container flex-wrap pb-14"> <div class="container "> <div class="score-column4 equal"> <div class="score-left"> <div class="rich-text "> <div class="rich-text"></div> </div> <div class="score-image-wrapper "> <img src="/siteassets/images/logo/cook_childrens_standard.svg" alt="" /> </div> </div> <div class="score-center"> <div class="rich-text "> <div class="rich-text"><p style="margin-top: 20px;"><strong>About The Arcuate</strong><br />Cook Children's Arcuate News seeks to provide you with information on programs, innovations, stories, and our continued efforts to provide the best neurosciences care to the patients of Texas and beyond.</p></div> </div> </div> <div class="score-center2"> <div class="rich-text "> <div class="rich-text"><p style="margin-top: 20px;"><strong>From our directors</strong><br />It is an honor and privilege for us to lead the Jane and John Justin Neurosciences Center at Cook Children's. 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