Solving the unsolved genetic epilepsies: Current and future perspectives

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  • Katrine M. Johannesen
  • Tümer, Zeynep
  • Sarah Weckhuysen
  • Tahsin Stefan Barakat
  • Allan Bayat

Many patients with epilepsy undergo exome or genome sequencing as part of a diagnostic workup; however, many remain genetically unsolved. There are various factors that account for negative results in exome/genome sequencing for patients with epilepsy: (1) the underlying cause is not genetic; (2) there is a complex polygenic explanation; (3) the illness is monogenic but the causative gene remains to be linked to a human disorder; (4) family segregation with reduced penetrance; (5) somatic mosaicism or the complexity of, for example, a structural rearrangement; or (6) limited knowledge or diagnostic tools that hinder the proper classification of a variant, resulting in its designation as a variant of unknown significance. The objective of this review is to outline some of the diagnostic options that lie beyond the exome/genome, and that might become clinically relevant within the foreseeable future. These options include: (1) re-analysis of older exome/genome data as knowledge increases or symptoms change; (2) looking for somatic mosaicism or long-read sequencing to detect low-complexity repeat variants or specific structural variants missed by traditional exome/genome sequencing; (3) exploration of the non-coding genome including disruption of topologically associated domains, long range non-coding RNA, or other regulatory elements; and finally (4) transcriptomics, DNA methylation signatures, and metabolomics as complementary diagnostic methods that may be used in the assessment of variants of unknown significance. Some of these tools are currently not integrated into standard diagnostic workup. However, it is reasonable to expect that they will become increasingly available and improve current diagnostic capabilities, thereby enabling precision diagnosis in patients who are currently undiagnosed.

OriginalsprogEngelsk
TidsskriftEpilepsia
Vol/bind64
Udgave nummer12
Sider (fra-til)3143-3154
Antal sider12
ISSN0013-9580
DOI
StatusUdgivet - 2023

Bibliografisk note

Funding Information:
This research received no external funding. T.S.B. acknowledges ongoing support by the Netherlands Organization for Scientific Research (ZonMw Vidi, grant 09150172110002), by an Erasmus MC Human Disease Model Award 2018, a Citizens United for Research in Epilepsy (CURE) Epilepsy Award 2021, and funds from EpilepsieNL (WAR 2022‐01). S.W. received funding from FWO (1861419 N and G056122N) and the Queen Elisabeth Medical Foundation. A.B. is funded by a BRIDGE‐Translational Excellence Programme grant funded by the Novo Nordisk Foundation, grant agreement number: NNF20SA0064340.

Publisher Copyright:
© 2023 The Authors. Epilepsia published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.

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