Preface: Special issue: "Ion channels and genetic epilepsy".

Autor: Reid CA; Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia.
Jazyk: angličtina
Zdroj: Journal of neurochemistry [J Neurochem] 2024 Dec; Vol. 168 (12), pp. 3829-3830. Date of Electronic Publication: 2024 May 09.
DOI: 10.1111/jnc.16121
Abstrakt: This preface introduces the Journal of Neurochemistry Special Issue on Advances in Epilepsy Research. Epilepsy is a devastating disease characterized by recurrent seizures. Despite the addition of numerous therapeutics over the last few decades epilepsy patients resistant to standard of care treatments remains stubbornly high. This highlights a clear unmet clinical need and the importance of new research into this disease. One major advance over the last two decades has been the recognition that genetic factors play a significant role in the underlying pathogenesis of epilepsy. Much of our insights into the pathogenic mechanisms underlying genetic epilepsy has come from research into genes that encode ion channels. In this issue, there are up-to-date reviews discussing epilepsy caused by variation in HCN channels, voltage-dependent sodium channels, voltage-dependent calcium channels, and GABA A receptors. The reviews highlight our understanding of the genotype-phenotype relationships and the identification of precision medicine approaches. Complimenting this is a review on metabolic aspects modulating ion channels in genetic disease. This issue also has fundamental research manuscripts investigating how currently approved drugs may rescue NMDA receptor dysfunction and how in vitro neuron cultures can be used to probe network scale deficits and drug impacts in SCN2A disease. Other primary data manuscripts include those focusing on metabolic therapies, gut microbiota, and new in vivo screening tools for identifying novel anti-seizure drugs. Collectively, manuscripts published as part of this edition highlight recent research gains, especially in our understanding of genetic causes of epilepsy involving ion channels.
(© 2024 International Society for Neurochemistry.)
Databáze: MEDLINE
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