Literature DB >> 26416172

A roadmap for precision medicine in the epilepsies.

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Abstract

Technological advances have paved the way for accelerated genomic discovery and are bringing precision medicine clearly into view. Epilepsy research in particular is well suited to serve as a model for the development and deployment of targeted therapeutics in precision medicine because of the rapidly expanding genetic knowledge base in epilepsy, the availability of good in-vitro and in-vivo model systems to efficiently study the biological consequences of genetic mutations, the ability to turn these models into effective drug-screening platforms, and the establishment of collaborative research groups. Moving forward, it is crucial that these collaborations are strengthened, particularly through integrated research platforms, to provide robust analyses both for accurate personal genome analysis and gene and drug discovery. Similarly, the implementation of clinical trial networks will allow the expansion of patient sample populations with genetically defined epilepsy so that drug discovery can be translated into clinical practice.
Copyright © 2015 Elsevier Ltd. All rights reserved.

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Year:  2015        PMID: 26416172      PMCID: PMC4663979          DOI: 10.1016/S1474-4422(15)00199-4

Source DB:  PubMed          Journal:  Lancet Neurol        ISSN: 1474-4422            Impact factor:   44.182


  112 in total

1.  Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features.

Authors:  Sergey Kalachikov; Oleg Evgrafov; Barbara Ross; Melodie Winawer; Christie Barker-Cummings; Filippo Martinelli Boneschi; Chang Choi; Pavel Morozov; Kamna Das; Elita Teplitskaya; Andrew Yu; Eftihia Cayanis; Graciela Penchaszadeh; Andreas H Kottmann; Timothy A Pedley; W Allen Hauser; Ruth Ottman; T Conrad Gilliam
Journal:  Nat Genet       Date:  2002-01-28       Impact factor: 38.330

2.  Structural genomic variation in childhood epilepsies with complex phenotypes.

Authors:  Ingo Helbig; Marielle E M Swinkels; Emmelien Aten; Almuth Caliebe; Ruben van 't Slot; Rainer Boor; Sarah von Spiczak; Hiltrud Muhle; Johanna A Jähn; Ellen van Binsbergen; Onno van Nieuwenhuizen; Floor E Jansen; Kees P J Braun; Gerrit-Jan de Haan; Niels Tommerup; Ulrich Stephani; Helle Hjalgrim; Martin Poot; Dick Lindhout; Eva H Brilstra; Rikke S Møller; Bobby P C Koeleman
Journal:  Eur J Hum Genet       Date:  2013-11-27       Impact factor: 4.246

3.  Genic intolerance to functional variation and the interpretation of personal genomes.

Authors:  Slavé Petrovski; Quanli Wang; Erin L Heinzen; Andrew S Allen; David B Goldstein
Journal:  PLoS Genet       Date:  2013-08-22       Impact factor: 5.917

4.  Drug screening in Scn1a zebrafish mutant identifies clemizole as a potential Dravet syndrome treatment.

Authors:  Scott C Baraban; Matthew T Dinday; Gabriela A Hortopan
Journal:  Nat Commun       Date:  2013       Impact factor: 14.919

5.  Describing the genetic architecture of epilepsy through heritability analysis.

Authors:  Doug Speed; Terence J O'Brien; Aarno Palotie; Kirill Shkura; Anthony G Marson; David J Balding; Michael R Johnson
Journal:  Brain       Date:  2014-07-26       Impact factor: 13.501

Review 6.  Antisense therapy in neurology.

Authors:  Joshua J A Lee; Toshifumi Yokota
Journal:  J Pers Med       Date:  2013-08-02

7.  Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy.

Authors: 
Journal:  Ann Neurol       Date:  2015-07-01       Impact factor: 10.422

8.  Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.

Authors:  Brian J O'Roak; Pelagia Deriziotis; Choli Lee; Laura Vives; Jerrod J Schwartz; Santhosh Girirajan; Emre Karakoc; Alexandra P Mackenzie; Sarah B Ng; Carl Baker; Mark J Rieder; Deborah A Nickerson; Raphael Bernier; Simon E Fisher; Jay Shendure; Evan E Eichler
Journal:  Nat Genet       Date:  2011-05-15       Impact factor: 38.330

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.  Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase.

Authors:  Lily Paemka; Vinit B Mahajan; Salleh N Ehaideb; Jessica M Skeie; Men Chee Tan; Shu Wu; Allison J Cox; Levi P Sowers; Jozef Gecz; Lachlan Jolly; Polly J Ferguson; Benjamin Darbro; Amy Schneider; Ingrid E Scheffer; Gemma L Carvill; Heather C Mefford; Hatem El-Shanti; Stephen A Wood; J Robert Manak; Alexander G Bassuk
Journal:  PLoS Genet       Date:  2015-03-12       Impact factor: 5.917

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  63 in total

1.  A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

Authors:  Heather E Olson; Nolwenn Jean-Marçais; Edward Yang; Delphine Heron; Katrina Tatton-Brown; Paul A van der Zwaag; Emilia K Bijlsma; Bryan L Krock; E Backer; Erik-Jan Kamsteeg; Margje Sinnema; Margot R F Reijnders; David Bearden; Amber Begtrup; Aida Telegrafi; Roelineke J Lunsing; Lydie Burglen; Gaetan Lesca; Megan T Cho; Lacey A Smith; Beth R Sheidley; Christelle Moufawad El Achkar; Phillip L Pearl; Annapurna Poduri; Cara M Skraban; Jennifer Tarpinian; Addie I Nesbitt; Dietje E Fransen van de Putte; Claudia A L Ruivenkamp; Patrick Rump; Nicolas Chatron; Isabelle Sabatier; Julitta De Bellescize; Laurent Guibaud; David A Sweetser; Jessica L Waxler; Klaas J Wierenga; Jean Donadieu; Vinodh Narayanan; Keri M Ramsey; Caroline Nava; Jean-Baptiste Rivière; Antonio Vitobello; Frédéric Tran Mau-Them; Christophe Philippe; Ange-Line Bruel; Yannis Duffourd; Laurel Thomas; Stefan H Lelieveld; Janneke Schuurs-Hoeijmakers; Han G Brunner; Boris Keren; Julien Thevenon; Laurence Faivre; Gary Thomas; Christel Thauvin-Robinet
Journal:  Am J Hum Genet       Date:  2018-04-12       Impact factor: 11.025

2.  Variability Among Next-Generation Sequencing Panels for Early-Life Epilepsies.

Authors:  Christopher J Yuskaitis; Beth Rosen Sheidley; Annapurna Poduri
Journal:  JAMA Pediatr       Date:  2018-08-01       Impact factor: 16.193

3.  Diagnostic yield of genetic tests in epilepsy: A meta-analysis and cost-effectiveness study.

Authors:  Iván Sánchez Fernández; Tobias Loddenkemper; Marina Gaínza-Lein; Beth Rosen Sheidley; Annapurna Poduri
Journal:  Neurology       Date:  2019-01-04       Impact factor: 9.910

4.  Depression and genetic causal attribution of epilepsy in multiplex epilepsy families.

Authors:  Shawn T Sorge; Dale C Hesdorffer; Jo C Phelan; Melodie R Winawer; Sara Shostak; Jeff Goldsmith; Wendy K Chung; Ruth Ottman
Journal:  Epilepsia       Date:  2016-08-25       Impact factor: 5.864

5.  GRIN and Bear the Diverse Functional Effects of Rare NMDA Receptor Variants.

Authors:  Matthew C Weston
Journal:  Epilepsy Curr       Date:  2017 Nov-Dec       Impact factor: 7.500

6.  Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

Authors:  Dheeraj R Bobbili; Dennis Lal; Patrick May; Eva M Reinthaler; Kamel Jabbari; Holger Thiele; Michael Nothnagel; Wiktor Jurkowski; Martha Feucht; Peter Nürnberg; Holger Lerche; Fritz Zimprich; Roland Krause; Bernd A Neubauer; Eva M Reinthaler; Fritz Zimprich; Martha Feucht; Hannelore Steinböck; Birgit Neophytou; Julia Geldner; Ursula Gruber-Sedlmayr; Edda Haberlandt; Gabriel M Ronen; Janine Altmüller; Dennis Lal; Peter Nürnberg; Thomas Sander; Holger Thiele; Roland Krause; Patrick May; Rudi Balling; Holger Lerche; Bernd A Neubauer
Journal:  Eur J Hum Genet       Date:  2018-01-22       Impact factor: 4.246

7.  Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.

Authors:  Mirna Assoum; Christophe Philippe; Bertrand Isidor; Laurence Perrin; Periklis Makrythanasis; Neal Sondheimer; Caroline Paris; Jessica Douglas; Gaetan Lesca; Stylianos Antonarakis; Hanan Hamamy; Thibaud Jouan; Yannis Duffourd; Stéphane Auvin; Aline Saunier; Amber Begtrup; Catherine Nowak; Nicolas Chatron; Dorothée Ville; Kamiar Mireskandari; Paolo Milani; Philippe Jonveaux; Guylène Lemeur; Mathieu Milh; Masano Amamoto; Mitsuhiro Kato; Mitsuko Nakashima; Noriko Miyake; Naomichi Matsumoto; Amira Masri; Christel Thauvin-Robinet; Jean-Baptiste Rivière; Laurence Faivre; Julien Thevenon
Journal:  Am J Hum Genet       Date:  2016-11-23       Impact factor: 11.025

Review 8.  Drug development in the era of precision medicine.

Authors:  Sarah A Dugger; Adam Platt; David B Goldstein
Journal:  Nat Rev Drug Discov       Date:  2017-12-08       Impact factor: 84.694

9.  PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum.

Authors:  Lacey Smith; Nilika Singhal; Christelle M El Achkar; Gessica Truglio; Beth Rosen Sheidley; Joseph Sullivan; Annapurna Poduri
Journal:  Epilepsia       Date:  2018-01-28       Impact factor: 5.864

Review 10.  Toward precision medicine in neurological diseases.

Authors:  Lin Tan; Teng Jiang; Lan Tan; Jin-Tai Yu
Journal:  Ann Transl Med       Date:  2016-03
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