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SCN1A channelopathies: Navigating from genotype to neural circuit dysfunction

17 Apr 2023

Abstract excerpt

The SCN1A gene is strongly associated with epilepsy and plays a central role for supporting cortical excitation-inhibition balance through the expression of Na V 1.1 within inhibitory interneurons. The phenotype of SCN1A disorders has been conceptualized as driven primarily by impaired interneuron function that predisposes to disinhibition and cortical hyperexcitability. However, recent studies have identified...

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PMID: 37139072
DOI: 10.3389/fneur.2023.1173460

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