Literature DB >> 35716052

Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress.

Juliet K Knowles1, Ingo Helbig2,3,4,5,6,7, Cameron S Metcalf8, Laura S Lubbers9, Lori L Isom10, Scott Demarest11, Ethan M Goldberg2,3,5, Alfred L George12, Holger Lerche13, Sarah Weckhuysen14,15,16,17, Vicky Whittemore18, Samuel F Berkovic19, Daniel H Lowenstein20.   

Abstract

The genetic basis of many epilepsies is increasingly understood, giving rise to the possibility of precision treatments tailored to specific genetic etiologies. Despite this, current medical therapy for most epilepsies remains imprecise, aimed primarily at empirical seizure reduction rather than targeting specific disease processes. Intellectual and technological leaps in diagnosis over the past 10 years have not yet translated to routine changes in clinical practice. However, the epilepsy community is poised to make impressive gains in precision therapy, with continued innovation in gene discovery, diagnostic ability, and bioinformatics; increased access to genetic testing and counseling; fuller understanding of natural histories; agility and rigor in preclinical research, including strategic use of emerging model systems; and engagement of an evolving group of stakeholders (including patient advocates, governmental resources, and clinicians and scientists in academia and industry). In each of these areas, we highlight notable examples of recent progress, new or persistent challenges, and future directions. The future of precision medicine for genetic epilepsy looks bright if key opportunities on the horizon can be pursued with strategic and coordinated effort.
© 2022 International League Against Epilepsy.

Entities:  

Keywords:  epilepsy; exome sequencing; genomic medicine; personalized medicine; precision medicine

Mesh:

Year:  2022        PMID: 35716052      PMCID: PMC9561034          DOI: 10.1111/epi.17332

Source DB:  PubMed          Journal:  Epilepsia        ISSN: 0013-9580            Impact factor:   6.740


  97 in total

1.  Design and implementation of electronic health record common data elements for pediatric epilepsy: Foundations for a learning health care system.

Authors:  Zachary M Grinspan; Anup D Patel; Renée A Shellhaas; Anne T Berg; Erika T Axeen; Jeffrey Bolton; David F Clarke; Jason Coryell; William D Gaillard; Howard P Goodkin; Sookyong Koh; Alison Kukla; Juma S Mbwana; Lindsey A Morgan; Nilika S Singhal; Margaret M Storey; Elissa G Yozawitz; Nicholas S Abend; Mark P Fitzgerald; Sara E Fridinger; Ingo Helbig; Shavonne L Massey; Marisa S Prelack; Jeffrey Buchhalter
Journal:  Epilepsia       Date:  2020-12-24       Impact factor: 5.864

2.  Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals.

Authors: 
Journal:  Am J Hum Genet       Date:  2019-07-18       Impact factor: 11.025

3.  Worldwide barriers to genetic testing for movement disorders.

Authors:  Emilia M Gatto; Ruth H Walker; Claudio Gonzalez; Martin Cesarini; Giovanni Cossu; Christopher D Stephen; Bettina Balint; Mayela Rodríguez-Violante; Joseph Jankovic; Francesca Morgante; Hyder A Jinnah
Journal:  Eur J Neurol       Date:  2021-03-17       Impact factor: 6.089

4.  Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.

Authors:  Sebastian Lunke; Stefanie Eggers; Meredith Wilson; Chirag Patel; Christopher P Barnett; Jason Pinner; Sarah A Sandaradura; Michael F Buckley; Emma I Krzesinski; Michelle G de Silva; Gemma R Brett; Kirsten Boggs; David Mowat; Edwin P Kirk; Lesley C Adès; Lauren S Akesson; David J Amor; Samantha Ayres; Anne Baxendale; Sarah Borrie; Alessandra Bray; Natasha J Brown; Cheng Yee Chan; Belinda Chong; Corrina Cliffe; Martin B Delatycki; Matthew Edwards; George Elakis; Michael C Fahey; Andrew Fennell; Lindsay Fowles; Lyndon Gallacher; Megan Higgins; Katherine B Howell; Lauren Hunt; Matthew F Hunter; Kristi J Jones; Sarah King; Smitha Kumble; Sarah Lang; Maelle Le Moing; Alan Ma; Dean Phelan; Michael C J Quinn; Anna Richards; Christopher M Richmond; Jessica Riseley; Jonathan Rodgers; Rani Sachdev; Simon Sadedin; Luregn J Schlapbach; Janine Smith; Amanda Springer; Natalie B Tan; Tiong Y Tan; Suzanna L Temple; Christiane Theda; Anand Vasudevan; Susan M White; Alison Yeung; Ying Zhu; Melissa Martyn; Stephanie Best; Tony Roscioli; John Christodoulou; Zornitza Stark
Journal:  JAMA       Date:  2020-06-23       Impact factor: 56.272

5.  Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy.

Authors:  Eugenio Mercuri; Basil T Darras; Claudia A Chiriboga; John W Day; Craig Campbell; Anne M Connolly; Susan T Iannaccone; Janbernd Kirschner; Nancy L Kuntz; Kayoko Saito; Perry B Shieh; Már Tulinius; Elena S Mazzone; Jacqueline Montes; Kathie M Bishop; Qingqing Yang; Richard Foster; Sarah Gheuens; C Frank Bennett; Wildon Farwell; Eugene Schneider; Darryl C De Vivo; Richard S Finkel
Journal:  N Engl J Med       Date:  2018-02-15       Impact factor: 91.245

6.  Antisense oligonucleotide therapy reduces seizures and extends life span in an SCN2A gain-of-function epilepsy model.

Authors:  Melody Li; Nikola Jancovski; Paymaan Jafar-Nejad; Lisseth E Burbano; Ben Rollo; Kay Richards; Lisa Drew; Alicia Sedo; Jacqueline Heighway; Svenja Pachernegg; Armand Soriano; Linghan Jia; Todd Blackburn; Blaine Roberts; Alex Nemiroff; Kelley Dalby; Snezana Maljevic; Christopher A Reid; Frank Rigo; Steven Petrou
Journal:  J Clin Invest       Date:  2021-12-01       Impact factor: 14.808

7.  Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.

Authors:  Silvia Masnada; Ulrike B S Hedrich; Elena Gardella; Julian Schubert; Charu Kaiwar; Eric W Klee; Brendan C Lanpher; Ralitza H Gavrilova; Matthis Synofzik; Thomas Bast; Kathleen Gorman; Mary D King; Nicholas M Allen; Judith Conroy; Bruria Ben Zeev; Michal Tzadok; Christian Korff; Fanny Dubois; Keri Ramsey; Vinodh Narayanan; Jose M Serratosa; Beatriz G Giraldez; Ingo Helbig; Eric Marsh; Margaret O'Brien; Christina A Bergqvist; Adrian Binelli; Brenda Porter; Eduardo Zaeyen; Dafne D Horovitz; Markus Wolff; Dragan Marjanovic; Hande S Caglayan; Mutluay Arslan; Sergio D J Pena; Sanjay M Sisodiya; Simona Balestrini; Steffen Syrbe; Pierangelo Veggiotti; Johannes R Lemke; Rikke S Møller; Holger Lerche; Guido Rubboli
Journal:  Brain       Date:  2017-09-01       Impact factor: 13.501

Review 8.  The developing utility of zebrafish models of neurological and neuropsychiatric disorders: A critical review.

Authors:  Barbara D Fontana; Nathana J Mezzomo; Allan V Kalueff; Denis B Rosemberg
Journal:  Exp Neurol       Date:  2017-10-05       Impact factor: 5.330

9.  De novo mutations in epileptic encephalopathies.

Authors:  Andrew S Allen; Samuel F Berkovic; Patrick Cossette; Norman Delanty; Dennis Dlugos; Evan E Eichler; Michael P Epstein; Tracy Glauser; David B Goldstein; Yujun Han; Erin L Heinzen; Yuki Hitomi; Katherine B Howell; Michael R Johnson; Ruben Kuzniecky; Daniel H Lowenstein; Yi-Fan Lu; Maura R Z Madou; Anthony G Marson; Heather C Mefford; Sahar Esmaeeli Nieh; Terence J O'Brien; Ruth Ottman; Slavé Petrovski; Annapurna Poduri; Elizabeth K Ruzzo; Ingrid E Scheffer; Elliott H Sherr; Christopher J Yuskaitis; Bassel Abou-Khalil; Brian K Alldredge; Jocelyn F Bautista; Samuel F Berkovic; Alex Boro; Gregory D Cascino; Damian Consalvo; Patricia Crumrine; Orrin Devinsky; Dennis Dlugos; Michael P Epstein; Miguel Fiol; Nathan B Fountain; Jacqueline French; Daniel Friedman; Eric B Geller; Tracy Glauser; Simon Glynn; Sheryl R Haut; Jean Hayward; Sandra L Helmers; Sucheta Joshi; Andres Kanner; Heidi E Kirsch; Robert C Knowlton; Eric H Kossoff; Rachel Kuperman; Ruben Kuzniecky; Daniel H Lowenstein; Shannon M McGuire; Paul V Motika; Edward J Novotny; Ruth Ottman; Juliann M Paolicchi; Jack M Parent; Kristen Park; Annapurna Poduri; Ingrid E Scheffer; Renée A Shellhaas; Elliott H Sherr; Jerry J Shih; Rani Singh; Joseph Sirven; Michael C Smith; Joseph Sullivan; Liu Lin Thio; Anu Venkat; Eileen P G Vining; Gretchen K Von Allmen; Judith L Weisenberg; Peter Widdess-Walsh; Melodie R Winawer
Journal:  Nature       Date:  2013-08-11       Impact factor: 49.962

10.  High-fidelity CRISPR-Cas9 nucleases with no detectable genome-wide off-target effects.

Authors:  Benjamin P Kleinstiver; Vikram Pattanayak; Michelle S Prew; Shengdar Q Tsai; Nhu T Nguyen; Zongli Zheng; J Keith Joung
Journal:  Nature       Date:  2016-01-06       Impact factor: 49.962

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