{"id":216445,"date":"2025-09-10T20:55:10","date_gmt":"2025-09-10T20:55:10","guid":{"rendered":"https:\/\/www.europesays.com\/us\/216445\/"},"modified":"2025-09-10T20:55:10","modified_gmt":"2025-09-10T20:55:10","slug":"how-advances-in-genetics-are-transforming-treatments-for-pediatric-epilepsy","status":"publish","type":"post","link":"https:\/\/www.europesays.com\/us\/216445\/","title":{"rendered":"How Advances in Genetics Are Transforming Treatments for Pediatric Epilepsy"},"content":{"rendered":"

For\u00a0Sucheta Joshi, MD, MS, FAAP, FAES<\/a>, Medical Director of the\u00a0Comprehensive Epilepsy Center<\/a>\u00a0in the\u00a0Neurological Institute<\/a>\u00a0at Children\u2019s Hospital Los Angeles, one of the most exciting advances in pediatric epilepsy research is how quickly genetic testing has transformed care.<\/p>\n

\u201cI have lived through an era in this field,\u201d Dr. Joshi explains. \u201cWe went from not knowing why a child has epilepsy, to identifying a genetic cause for the disorder, to developing gene-based interventions for specific types of epilepsy.\u201d<\/p>\n

CHLA\u2019s\u00a0Comprehensive Epilepsy Center<\/a>\u00a0is the only Level 4 Pediatric Epilepsy Center in a free-standing children\u2019s hospital in Los Angeles and a leader in pediatric epilepsy care, providing the full range of diagnostics and treatments that enable experts like Dr. Joshi to individualize care to each patient. \u201cFor certain forms of epilepsy,\u201d she says, \u201cwe can now tell families that we will soon have a drug that will target not only the child\u2019s seizures, but also the root cause.\u201d<\/p>\n

Studying genes to create precision epilepsy treatments<\/p>\n

Researchers have identified over 1,000 genes linked to epilepsy\u2014a number that continues to increase. This has opened the door to a variety of precision treatment possibilities, which is why CHLA has an on-site clinic for genetic testing.<\/p>\n

\u201cUnderstanding what a gene does and how it might modify brain cell function can direct us toward antiseizure medications that we know will work for that genetically modified epilepsy, or help us to avoid certain drugs which could make seizures worse for someone with that genetic mutation,\u201d Dr. Joshi says. \u201cIn addition, clinical trials are now investigating gene therapies, which could help improve the function of a particular gene that is not working properly.\u201d<\/p>\n

For example, Dravet syndrome is caused by mutations in the SCN1A gene.<\/p>\n

\u201cThere are certain antiseizure medications which actually make seizures worse for kids who have this mutation because of the way they impact sodium ion channels in the brain,\u201d she explains. \u201cConversely, there are medicines that are FDA-approved for treating SCN1A-based disorders. If we identify this mutation in a patient through genetic testing, we can avoid using inappropriate medications and pick these FDA-approved medications sooner in the child\u2019s course of treatment.\u201d<\/p>\n

Genetic testing has also led to the development of targeted treatments that don\u2019t involve medication, such as the\u00a0medical ketogenic diet<\/a>\u2014a high-fat, moderate-protein, low-carbohydrate diet that can be useful in some genetic forms of epilepsy.<\/p>\n

In GLUT1 deficiency syndrome, a patient has trouble transporting glucose from the blood to the brain, starving the brain of its usual fuel and causing a variety of neurological symptoms, including seizures. But with a ketogenic diet, the body breaks fat down into molecules called ketones, which serve as a backup fuel for the brain. \u201cThis can have profound effects on seizure reduction,\u201d Dr. Joshi says.<\/p>\n

In addition to dietary treatments, she notes that surgical techniques and neuromodulation, or brain stimulation, have made great progress in reducing or eliminating seizures.<\/p>\n

Overcoming challenges in care<\/p>\n

Among those with epilepsy, about 25% to 30% of individuals have treatment-resistant epilepsy. In some other cases, treatments can reduce the frequency of seizures but cannot eliminate them.<\/p>\n

\u201cGetting children to a comprehensive pediatric epilepsy center for genetic testing in a timely fashion is key to treating them effectively,\u201d Dr. Joshi says. \u201cWe still don\u2019t have uniform access to genetic testing across the country, and we\u2019ll need that to be able to provide all kids with state-of-the-art diagnostic and therapeutic interventions.\u201d<\/p>\n

\u201cAt CHLA, we are fortunate to have excellent collaboration between medical genetics experts, neurologists, epilepsy specialists, and our\u00a0Center for Personalized Medicine<\/a>,\u201d she explains. \u201cWe all work together to provide a treatment tailored to each child we see.\u201d<\/p>\n","protected":false},"excerpt":{"rendered":"For\u00a0Sucheta Joshi, MD, MS, FAAP, FAES, Medical Director of the\u00a0Comprehensive Epilepsy Center\u00a0in the\u00a0Neurological Institute\u00a0at Children\u2019s Hospital Los Angeles,…\n","protected":false},"author":3,"featured_media":216446,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[26],"tags":[815,1941,118228,159,67,132,68],"class_list":{"0":"post-216445","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-genetics","9":"tag-newswise","10":"tag-pediatric-epilepsygeneticscomprehensive-epilepsy-center-at-children","11":"tag-science","12":"tag-united-states","13":"tag-unitedstates","14":"tag-us"},"share_on_mastodon":{"url":"https:\/\/pubeurope.com\/@us\/115181999024904930","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts\/216445","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/comments?post=216445"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts\/216445\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/media\/216446"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/media?parent=216445"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/categories?post=216445"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/tags?post=216445"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}