Among the articles featured this month, we highlight the work of former CURE Grantee Dr. Annapurna Poduri, whose recent study argues for early use of whole exome sequencing and repeated analysis to identify the genetic cause of epilepsy in children. Dr. Poduri’s study supports the idea that reanalysis can aid in diagnosis. We also highlight Dr. Tristan Shuman, whose CURE-funded work sheds light on how epilepsy can affect cognition.

You can find more detail about our CURE Grantees’ work, as well as additional intriguing studies, below.

Research Discoveries & News

• Epilepsy Genetics: In a study featuring the work of past CURE Grantee Dr. Annapurna Poduri, authors argue that use of whole exome sequencing with reanalysis of genetic data can, in some cases, more quickly lead to the identification of genetic variants associated with epilepsy in patients. Learn More
• Epilepsy and Cognition: A study partially funded by CURE investigated the ways epilepsy affects navigation in mice. CURE Grantee Dr. Tristan Shuman and collaborators report that a particular feature of epilepsy – namely the “desynchronization” of neurons in the brain that are important in cognition – causes deficits in spatial information coding. Learn More
• Dravet Syndrome: Researchers report that treating a mouse modeling Dravet syndrome with a small molecule reduces abnormal brain activity and improves cognitive function. The study states that the molecule enhances the function of a particular type of brain receptor found at the connection points between neurons. Learn More
• Epilepsy and Technology: Smartphone videos taken by witnesses could help physicians diagnose seizures. Researchers concluded that patient-generated smartphone videos can help predict inpatient video-EEG diagnosis of epilepsy and add valuable information to the patient’s history and physical examination. Learn More
• Angelman Syndrome: Using human nerve cells and three-dimensional “mini brains,” researchers have found that dysfunctional potassium channels may underlie the development of seizures associated with Angelman syndrome. Learn More
• Epilepsy Benchmarks: These articles review the NINDS Epilepsy Benchmarks, examining progress made in epilepsy research and identifying priorities for the next phases of research. This is a process that continues to evolve to reflect scientific advances and community research priorities over time. Learn More
  • The Benchmarks: Progress and Emerging Priorities in Epilepsy Research - Learn More
  • Epilepsy Benchmarks Area I: Understanding the Causes of Epilepsies and Epilepsy-Related Neurologic, Psychiatric and Somatic Conditions - Learn More
  • Epilepsy Benchmarks Area II: Prevent Epilepsy and Its Progression - Learn More
  • Epilepsy Benchmarks Area III: Improved Treatment Options for Controlling Seizures and Epilepsy-Related Conditions without Side Effects - Learn More
  • Epilepsy Benchmarks Area IV: Limit or Prevent Adverse Consequences of Seizures and Their Treatment Across the Life Span - Learn More

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