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Published in 2020 at "The Lancet Neurology"
DOI: 10.1016/s1474-4422(19)30269-8
Abstract: Genomics now has an increasingly important role in neurology clinics. Regarding the epilepsies, innovations centred around technology, analytics, and collaboration have led to remarkable progress in gene discovery and have revealed the diverse array of…
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Keywords:
epilepsy genetics;
impacts biological;
genetics;
clinical impacts ... See more keywords
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Published in 2023 at "Current Opinion in Neurology"
DOI: 10.1097/wco.0000000000001141
Abstract: Purpose of review In this review, we aim to analyse the progress in understanding the genetic basis of the epilepsies, as well as ongoing efforts to define the increasingly diverse and novel presentations, phenotypes and…
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Keywords:
genetics going;
current landscape;
landscape epilepsy;
epilepsy genetics ... See more keywords
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Published in 2023 at "Practical Neurology"
DOI: 10.1136/pn-2022-003623
Abstract: An understanding of epilepsy genetics is important for adult neurologists, as making a genetic diagnosis gives clinical benefit. In this review, we describe the key features of different groups of genetic epilepsies. We describe the…
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Keywords:
adult neurologists;
practical guide;
epilepsy genetics;
genetics practical ... See more keywords
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Published in 2022 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2022.777115
Abstract: This review aims to provide an updated perspective of epilepsy genetics and precision medicine in adult patients, with special focus on developmental and epileptic encephalopathies (DEEs), covering relevant and controversial issues, such as defining candidates…
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Keywords:
precision medicine;
epilepsy genetics;
medicine;
genetics precision ... See more keywords