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Published in 2022 at "Epilepsia"
DOI: 10.1111/epi.17332
Abstract: The genetic basis of many epilepsies is increasingly understood, giving rise to the possibility of precision treatments tailored to specific genetic etiologies. Despite this, current medical therapy for most epilepsies remains imprecise, aimed primarily at…
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Keywords:
genetic epilepsy;
medicine genetic;
precision medicine;
medicine ... See more keywords
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Published in 2018 at "Neurology"
DOI: 10.1212/wnl.0000000000004774
Abstract: The KCNT1 gene encodes a sodium-gated potassium channel subunit, which modulates hyperpolarization after repetitive neural firing.1 In 2012, mutations in KCNT1 were discovered in the familial focal epilepsy syndrome, autosomal dominant nocturnal frontal lobe epilepsy…
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Keywords:
epilepsy;
medicine;
precision medicine;
medicine genetic ... See more keywords
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Published in 2022 at "Annals of Internal Medicine"
DOI: 10.7326/m22-0743
Abstract: This American College of Physicians position paper aims to inform ethical decision making for the integration of precision medicine and genetic testing into clinical care. Although the positions are primarily intended for practicing physicians, they…
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Keywords:
genetic testing;
medicine genetic;
precision medicine;
american college ... See more keywords