Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 compl...
Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes
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England: BMJ Publishing Group LTD
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English
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England: BMJ Publishing Group LTD
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BackgroundThe genetic architecture of non-acquired focal epilepsies (NAFEs) becomes increasingly unravelled using genome-wide sequencing datasets. However, it remains to be determined how this emerging knowledge can be translated into a diagnostic setting. To bridge this gap, we assessed the diagnostic outcomes of exome sequencing (ES) in NAFE.Meth...
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Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes
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TN_cdi_proquest_miscellaneous_2362063214
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2362063214
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ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2019-106658
