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** Epilepsy Research
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** News
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May 2025
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This month, we share the following articles and abstracts which are furthering the study of epilepsy and bringing the world closer to a cure.
* Children’s Hospital of Philadelphia Researchers Chart Natural History of Patients with SCN8A-Related Disorders ([link removed])
* Common Genetic Variants Linked to Drug-Resistant Epilepsy ([link removed])
* Novel Biomarker Helps Presurgical Evaluations in Children with Drug-Resistant Epilepsy ([link removed])
* Split Gene Therapy Delivers Promise in Mice Modeling Dravet Syndrome ([link removed])
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** Children’s Hospital of Philadelphia Researchers Chart Natural History of Patients with SCN8A-Related Disorders
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Researchers from the Epilepsy Neurogenetics Initiative (ENGIN) at Children’s Hospital of Philadelphia (CHOP) have completed a comprehensive natural history study of SCN8A-related disorders.
In this study, supported by a CURE Epilepsy Rare Epilepsy Partnership Award in partnership with The Cute Syndrome Foundation, researchers utilized electronic medical record data from 82 patients with SCN8A-related disorders and compared that information to a cohort of 2,833 patients with other genetic epilepsies.
Learn More ([link removed])
** Common Genetic Variants Linked to Drug-Resistant Epilepsy
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Certain common genetic changes might make some people with focal epilepsy less responsive to seizure medications, according to a recent study conducted by Professor Sanjay Sisodiya of UCL Queen Square Institute of Neurology.
Focal epilepsy, the most common type of epilepsy, is a condition where seizures start in one part of the brain. Antiseizure medication is usually prescribed for people with the condition; however, for one in three people with epilepsy, current antiseizure medications are ineffective. Until now, there has been little understanding about why antiseizure medications fail to work for some people.
Learn More ([link removed])
** Novel Biomarker Helps Presurgical Evaluations in Children with Drug-Resistant Epilepsy
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In a recent study, researchers on the Cook Children’s Neurology team examined the temporal relationship between electrographic features on an EEG known as spikes, ripples and fast ripples, and assessed the ability of these EEG features (and their combinations) to indicate the brain area that causes seizures; better isolation and targeting of this brain area for resective surgery could improve surgical outcomes.
Spikes are the most established of these features, or biomarkers, of epilepsy that occur between seizures. Yet, spikes may not be the most specific biomarker and indicator of a surgical target area since they are only partially consistent with the area of the brain that causes seizures and are often found in areas that are non-epileptogenic. High-frequency oscillations (HFOs), the fast oscillatory activity generated by the human brain, are considered more specific biomarkers of epilepsy than spikes.
Learn More ([link removed])
** Split Gene Therapy Delivers Promise in Mice Modeling Dravet Syndrome
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A potential new gene therapy for Dravet syndrome increases survival and prevents seizures, according to initial tests in mice. SCN1A, the gene altered in most people with Dravet syndrome, encodes a sodium ion channel that is essential for brain cells called interneurons to fire and transmit signals. In a recent study, researchers engineered two viruses, each carrying a portion of a therapeutic version of the SCN1A gene, and selectively targeted them to interneurons. These cells then translated the two halves of the gene and fused them to form the complete protein.
Half of the mice missing one portion of the SCN1A gene died from seizures within a few months of birth, but administering the dual virus into the animals completely prevented premature death.
Learn More ([link removed])
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