Antisense oligonucleotide therapy reduces seizures and extends life span in an SCN2A gain-of-function epilepsy model
| Autor: | Snezana Maljevic, Lisa Drew, Linghan Jia, Kelley Dalby, Melody Li, Svenja Pachernegg, Alex Nemiroff, Armand Soriano, Lisseth Estefania Burbano, Paymaan Jafar-Nejad, Nikola Jancovski, Frank Rigo, Steven Petrou, Blaine R. Roberts, Ben Rollo, Alicia Sedo, Kay L. Richards, Jacqueline Heighway, Todd Blackburn, Christopher A. Reid |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
medicine.medical_specialty
Brain Diseases Epilepsy NAV1.2 Voltage-Gated Sodium Channel Life span business.industry Epileptic encephalopathy General Medicine medicine.disease Seizure onset Mice Gain of function Behavioral test Endocrinology Phenotype Antisense Oligonucleotide Therapy Seizures Internal medicine Antisense oligonucleotides medicine Animals business Research Article |
| Zdroj: | J Clin Invest |
| Popis: | Epilepsy is the neurological disorder defined by spontaneous recurrent seizures, which are abnormal patterns of electrical discharge in the brain. A major advance in neurology over the last 20 years is the identification of genetic variation as an important cause of epilepsy, and in particular as a cause of the epileptic encephalopathies, defined by childhood-onset, treatment-resistant epilepsy accompanied by developmental delay leading to intellectual disability. Unfortunately, this progress in genetic diagnosis has yet to translate to effective precision or targeted therapeutics. However, in this issue of the JCI, Li and Jancovski et al. use antisense oligonucleotides (ASO) to treat or prevent epilepsy and epilepsy-associated cognitive and behavioral comorbidities in a mouse model of SCN2A encephalopathy, paralogous to the recurrent human variant SCN2A c.5645GA (p.R1882Q) associated with epileptic encephalopathy. These findings may inform the development of targeted or personalized therapies for what is currently an incurable and largely untreatable disorder. |
| Databáze: | OpenAIRE |
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