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class="breadcrumb-item"> <a href="/cook-childrens-researcher-co-chairs-recently-published-scn8a-consensus/"> <span>Cook Children’s researcher co-chairs recently published SCN8a consensus</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="/siteassets/images/specialties/neurology/arcuate/scnba-logo.jpg" alt="" /> </div> </div> <div class="blogs-container"> <div class="blogs-heading"> <h1 class="blogs-heading-title"> Cook Children’s researcher co-chairs recently published SCN8a consensus </h1> <div class="blogs-heading-date"> <span class="blogs-heading-category" style="color:"> Innovative Care, </span> <span class="blogs-heading-category" style="color:"> News and Announcements </span> | May 15, 2024 | Jane and John Justin Institute for Mind Health </div> <h2 class="blogs-heading-subtitle"> </h2> </div> <div class="blogs-content-main-set"> <div class="rich-text"><p>Scott Perry M.D., head of Neurosciences at the Jane and John Justin Institute for Mind Health, recently served as co-chair for the first global consensus on the diagnosis and treatment of <em>SCN8a</em>-related disorders. <em>SCN8a</em>-related disorders is a collection of rare neurological conditions with varied phenotypes including drug-resistant epileptic encephalopathy, intellectual delays and movement disorders, as well as a benign self-limited epilepsy of infancy, among other phenotypes. These disorders are caused by variants in the <em>SCN8a</em> gene that encodes a sodium channel essential to neuronal function. These have an estimated incidence of 1 in 56,000.</p> <p>Given the rarity of these conditions, standards for diagnosis, treatment and recognition of various comorbid conditions are lacking. This hinders early diagnosis and appropriate treatment, leading to poorer outcomes. Partnering with the <a title="International SCN8a Alliance" href="https://scn8aalliance.org/" target="_blank" rel="noopener">International SCN8a Alliance</a>, Dr. Perry and Co-chair Gabi Conecker, (Executive Director and Co-Founder of Decoding Developmental Epilepsies), led a modified Delphi project. In an effort to achieve consensus of experts in the condition, this project consisted of a thorough literature review, followed by three rounds of surveys addressing topics related to diagnosis, treatment, comorbid conditions and prognosis of the varied phenotypes recognized to presently exist. This multi-year project included 45 panelists total – 30 clinicians, one researcher and 14 caregivers. <a title="SCN8A Alliance" href="https://scn8aalliance.org/developing-an-scn8a-standard-of-care/" target="_blank" rel="noopener">Recently, the results of this project were published in the journal <em>Epilepsia,</em> with Dr. Perry serving as senior author on both manuscripts</a>. These two manuscripts will be open-access, allowing worldwide review of these important documents, which will lead to better care for these rare conditions:</p> <ul> <li>Global Modified-Delphi Consensus on Diagnosis, Phenotypes, and Treatment of SCN8a-Related Epilepsy and/or Neurodevelopmental Disorders</li> <li>Global Modified-Delphi Consensus on Comorbidities and Prognosis of SCN8a-Related Epilepsy and or Neurodevelopmental Disorders</li> </ul></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"> </div> </div> <script type="application/ld+json"> { "@context": "http://schema.org", "@type": "BlogPosting", "mainEntityOfPage": { "@type": "WebPage", "@id": "https://www.arcuate.org/cook-childrens-researcher-co-chairs-recently-published-scn8a-consensus/" }, "headline": "Cook Children’s researcher co-chairs recently published SCN8a consensus", "description": "M. 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