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Epilepsy genetics: a practical guide for adult neurologists

Owen Pickrell Orcid Logo, Andrew E Fry Orcid Logo

Practical Neurology, Volume: 23, Issue: 2, Pages: 111 - 119

Swansea University Author: Owen Pickrell Orcid Logo

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DOI (Published version): 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 common available genetic tests for epilepsy, and how to interpret t...

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Published in: Practical Neurology
ISSN: 1474-7758 1474-7766
Published: BMJ 2023
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URI: https://cronfa.swan.ac.uk/Record/cronfa62418
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first_indexed 2023-01-23T21:13:02Z
last_indexed 2023-02-14T04:16:23Z
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spelling v2 62418 2023-01-23 Epilepsy genetics: a practical guide for adult neurologists 1c3044b5ff7a6552ff5e8c9e3901c807 0000-0003-4396-5657 Owen Pickrell Owen Pickrell true false 2023-01-23 FGMHL 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 common available genetic tests for epilepsy, and how to interpret them. Journal Article Practical Neurology 23 2 111 119 BMJ 1474-7758 1474-7766 Epilepsy, genetics 1 4 2023 2023-04-01 10.1136/pn-2022-003623 http://dx.doi.org/10.1136/pn-2022-003623 COLLEGE NANME Medicine, Health and Life Science - Faculty COLLEGE CODE FGMHL Swansea University Not Required 2023-06-27T15:41:10.6092441 2023-01-23T21:07:22.3704248 Faculty of Medicine, Health and Life Sciences Swansea University Medical School - Medicine Owen Pickrell 0000-0003-4396-5657 1 Andrew E Fry 0000-0001-9778-6924 2 62418__26575__7aad81e690654ec78acc061243a3bf5d.pdf 62418.pdf 2023-02-13T13:03:20.4521604 Output 335140 application/pdf Accepted Manuscript true © Author(s) (or their employer(s)) 2023. Released under the terms of a Creative Commons Attribution Non-Commercial License (CC-BY-NC) true eng https://creativecommons.org/licenses/by-nc/4.0/
title Epilepsy genetics: a practical guide for adult neurologists
spellingShingle Epilepsy genetics: a practical guide for adult neurologists
Owen Pickrell
title_short Epilepsy genetics: a practical guide for adult neurologists
title_full Epilepsy genetics: a practical guide for adult neurologists
title_fullStr Epilepsy genetics: a practical guide for adult neurologists
title_full_unstemmed Epilepsy genetics: a practical guide for adult neurologists
title_sort Epilepsy genetics: a practical guide for adult neurologists
author_id_str_mv 1c3044b5ff7a6552ff5e8c9e3901c807
author_id_fullname_str_mv 1c3044b5ff7a6552ff5e8c9e3901c807_***_Owen Pickrell
author Owen Pickrell
author2 Owen Pickrell
Andrew E Fry
format Journal article
container_title Practical Neurology
container_volume 23
container_issue 2
container_start_page 111
publishDate 2023
institution Swansea University
issn 1474-7758
1474-7766
doi_str_mv 10.1136/pn-2022-003623
publisher BMJ
college_str Faculty of Medicine, Health and Life Sciences
hierarchytype
hierarchy_top_id facultyofmedicinehealthandlifesciences
hierarchy_top_title Faculty of Medicine, Health and Life Sciences
hierarchy_parent_id facultyofmedicinehealthandlifesciences
hierarchy_parent_title Faculty of Medicine, Health and Life Sciences
department_str Swansea University Medical School - Medicine{{{_:::_}}}Faculty of Medicine, Health and Life Sciences{{{_:::_}}}Swansea University Medical School - Medicine
url http://dx.doi.org/10.1136/pn-2022-003623
document_store_str 1
active_str 0
description 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 common available genetic tests for epilepsy, and how to interpret them.
published_date 2023-04-01T15:41:06Z
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score 11.013082

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