Skip to main content
SpringerLink
Log in

EPILEPSY

Gene tests in adults with epilepsy and intellectual disability

  • News & Views
  • Published:

From Nature Reviews Neurology

View current issue Sign up to alerts

A recent study describes the yield and clinical utility of epilepsy gene panel testing in a cohort of adults with epilepsy and intellectual disability. These findings are similar to those in children with developmental epileptic encephalopathies and support the utility of testing in this subgroup of adults with epilepsy.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  1. Hesdorffer, D. C. et al. Estimating risk for developing epilepsy: a population-based study in Rochester, Minnesota. Neurology 76, 23–27 (2011).

    Article  CAS  Google Scholar 

  2. Chen, Z., Brodie, M. J., Liew, D. & Kwan, P. Treatment outcomes in patients with newly diagnosed epilepsy treated with established and new antiepileptic drugs: a 30-year longitudinal cohort study. JAMA Neurol. 75, 279–286 (2018).

    Article  Google Scholar 

  3. EpiPM Consortium. A roadmap for precision medicine in the epilepsies. Lancet Neurol. 14, 1219–1228 (2015).

    Article  Google Scholar 

  4. Ellis, C. A., Petrovski, S. & Berkovic, S. F. Epilepsy genetics: clinical impacts and biological insights. Lancet Neurol. 19, 93–100 (2020).

    Article  CAS  Google Scholar 

  5. Epi4K Consortium & Epilepsy Phenome/Genome Project. De novo mutations in epileptic encephalopathies. Nature 501, 217–221 (2013).

    Article  Google Scholar 

  6. Poduri, A., Sheidley, B. R., Shostak, S. & Ottman, R. Genetic testing in the epilepsies-developments and dilemmas. Nat. Rev. Neurol. 10, 293–299 (2014).

    Article  Google Scholar 

  7. Johannesen, K. M. et al. Utility of genetic testing for therapeutic decision-making in adults with epilepsy. Epilepsia https://doi.org/10.1111/epi.16533 (2020).

    Article  PubMed  Google Scholar 

  8. Borlot, F. et al. Clinical utility of multigene panel testing in adults with epilepsy and intellectual disability. Epilepsia 60, 1661–1669 (2019).

    Article  CAS  Google Scholar 

  9. Symonds, J. D. et al. Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort. Brain 142, 2303–2318 (2019).

    Article  Google Scholar 

  10. Peljto, A. L. et al. Familial risk of epilepsy: a population-based study. Brain 137, 795–805 (2014).

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. G. H. Sergievsky Center and Departments of Epidemiology and Neurology, Columbia University, New York, NY, USA

    Ruth Ottman

  2. Division of Translational Epidemiology, New York State Psychiatric Institute, New York, NY, USA

    Ruth Ottman

  3. Epilepsy Genetics Program, Department of Neurology, Boston Children’s Hospital, Boston, MA, USA

    Annapurna Poduri

  4. Department of Neurology, Harvard Medical School, Boston, MA, USA

    Annapurna Poduri

Authors
  1. Ruth Ottman
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Annapurna Poduri
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Ruth Ottman.

Ethics declarations

Competing interests

The authors declare no competing interests.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Ottman, R., Poduri, A. Gene tests in adults with epilepsy and intellectual disability. Nat Rev Neurol 16, 527–528 (2020). https://doi.org/10.1038/s41582-020-0388-5

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/s41582-020-0388-5

  • Springer Nature Limited

Search

Navigation