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** The Latest Epilepsy Research
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CURE Epilepsy is dedicated to funding patient-focused research to find a cure for the 65 million people with epilepsy worldwide. This month, we share the following articles and abstracts which are furthering the study of epilepsy and bringing the world closer to a cure.

This issue of Epilepsy Research News includes summaries of articles on:
* Little-Studied RNA Might be Key to Regulating Genetic Disorders Like Epilepsy, Autism ([link removed])
* Study Reveals Key Role of TRIO Gene in Epileptic Encephalopathies ([link removed])
* Largest-ever Genetic Study of Epilepsy Finds Possible Therapeutic Targets ([link removed])
* Novel Gene Therapy Shows Promise in Targeting a Mutation Linked to Epilepsy ([link removed])


** Little-Studied RNA Might be Key to Regulating Genetic Disorders Like Epilepsy, Autism
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When a gene produces too much protein, it can have devastating consequences on brain development and function. Patients with an overproduction of protein from the chromodomain helicase DNA binding (CHD2) gene can develop a rare and severe neurodevelopmental disorder causing them to become non-ambulatory, nonverbal and with profound intellectual delays. In a new study, scientists at Northwestern Medicine and the Broad Institute of MIT and Harvard have discovered that a characteristic of patients with this rare disorder is an absence of a long non-coding RNA called CHASERR (CHD2 adjacent, suppressive regulatory RNA). RNA stands for “ribonucleic acid,” which is found in all living cells and plays a crucial role in protein synthesis. In patients with this rare disorder, CHASERR is deleted and CHD2 protein production goes into overdrive. Long non-coding RNAs exist in the so-called “Wild West,” or the 99 percent of the human genome that is currently understudied.
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** Study Reveals Key Role of TRIO Gene in Epileptic Encephalopathies
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In a new study from Université de Montréal, researchers studied the molecular and cellular mechanisms by which some infants develop epileptic encephalopathies and autism spectrum disorder. These neurodevelopmental disorders are due to a dysfunction in the development of GABAergic interneurons, cells that are scarce in the brain, but whose inhibitory role is crucial to the proper wiring of the cerebral cortex. In particular, mutations in the TRIO gene disrupt the migration of these interneurons. After developing a unique microscopy technique that enables real-time tracking of interneuron movement during the embryonic period, the researchers demonstrated that loss of function of the TRIO gene impairs interneuron migration, a key process in the formation of the cerebral cortex.
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** Largest-ever Genetic Study of Epilepsy Finds Possible Therapeutic Targets
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A new study from the Epi25 Collaborative, a group of over 200 researchers around the world working to uncover the genetic basis of epilepsy, has revealed new potential targets for treatment, both shared by and unique to different subtypes of epilepsy. The researchers used an approach called whole exome sequencing to look at every gene in the protein-coding region of the genome. Since 2014, Epi25 has collected information from patients with multiple types of epilepsy, including a severe group of epilepsies known as developmental and epileptic encephalopathies, as well as more common and milder forms called genetic generalized epilepsy and non-acquired focal epilepsy (NAFE).
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** Novel Gene Therapy Shows Promise in Targeting a Mutation Linked to Epilepsy
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Researchers are testing a novel gene therapy approach for a rare genetic form of epilepsy linked to a mutation in the KCNA2 gene in the human brain, which is associated with recurring seizures. A specialized treatment called a Gapmer antisense oligonucleotide (ASO) is designed to specifically target and break down faulty ribonucleic acids (RNA) while keeping normal gene function intact. Using this RNA therapy approach led to a notable decrease in a problematic potassium channel protein encoded in the KCNA2 gene, which helped restore normal potassium flow and reduce excessive neuron activity linked to epilepsy.
Learn More ([link removed])


** Check Out Our Latest:
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Our mission is to fund breakthrough research that will transform the lives of people with epilepsy as we lead the search for a cure. CURE Epilepsy is a non-profit 501(c)(3) tax-exempt organization. Our tax identification number is 36-4253176.

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