Literature DB >> 25170321

Epi4K Phase I: Gene Discovery in Epileptic Encephalopathies by Exome Sequencing.

Jennifer A Kearney.   

Abstract

Entities:  

Year:  2014        PMID: 25170321      PMCID: PMC4120393          DOI: 10.5698/1535-7597-14.4.208

Source DB:  PubMed          Journal:  Epilepsy Curr        ISSN: 1535-7511            Impact factor:   7.500


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  9 in total

1.  Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

Authors:  Anita Rauch; Dagmar Wieczorek; Elisabeth Graf; Thomas Wieland; Sabine Endele; Thomas Schwarzmayr; Beate Albrecht; Deborah Bartholdi; Jasmin Beygo; Nataliya Di Donato; Andreas Dufke; Kirsten Cremer; Maja Hempel; Denise Horn; Juliane Hoyer; Pascal Joset; Albrecht Röpke; Ute Moog; Angelika Riess; Christian T Thiel; Andreas Tzschach; Antje Wiesener; Eva Wohlleber; Christiane Zweier; Arif B Ekici; Alexander M Zink; Andreas Rump; Christa Meisinger; Harald Grallert; Heinrich Sticht; Annette Schenck; Hartmut Engels; Gudrun Rappold; Evelin Schröck; Peter Wieacker; Olaf Riess; Thomas Meitinger; André Reis; Tim M Strom
Journal:  Lancet       Date:  2012-09-27       Impact factor: 79.321

2.  De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

Authors:  Stephan J Sanders; Michael T Murtha; Abha R Gupta; John D Murdoch; Melanie J Raubeson; A Jeremy Willsey; A Gulhan Ercan-Sencicek; Nicholas M DiLullo; Neelroop N Parikshak; Jason L Stein; Michael F Walker; Gordon T Ober; Nicole A Teran; Youeun Song; Paul El-Fishawy; Ryan C Murtha; Murim Choi; John D Overton; Robert D Bjornson; Nicholas J Carriero; Kyle A Meyer; Kaya Bilguvar; Shrikant M Mane; Nenad Sestan; Richard P Lifton; Murat Günel; Kathryn Roeder; Daniel H Geschwind; Bernie Devlin; Matthew W State
Journal:  Nature       Date:  2012-04-04       Impact factor: 49.962

3.  Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.

Authors:  Sharita Timal; Alexander Hoischen; Ludwig Lehle; Maciej Adamowicz; Karin Huijben; Jolanta Sykut-Cegielska; Justyna Paprocka; Ewa Jamroz; Francjan J van Spronsen; Christian Körner; Christian Gilissen; Richard J Rodenburg; Ilse Eidhof; Lambert Van den Heuvel; Christian Thiel; Ron A Wevers; Eva Morava; Joris Veltman; Dirk J Lefeber
Journal:  Hum Mol Genet       Date:  2012-04-05       Impact factor: 6.150

4.  Diagnostic exome sequencing in persons with severe intellectual disability.

Authors:  Joep de Ligt; Marjolein H Willemsen; Bregje W M van Bon; Tjitske Kleefstra; Helger G Yntema; Thessa Kroes; Anneke T Vulto-van Silfhout; David A Koolen; Petra de Vries; Christian Gilissen; Marisol del Rosario; Alexander Hoischen; Hans Scheffer; Bert B A de Vries; Han G Brunner; Joris A Veltman; Lisenka E L M Vissers
Journal:  N Engl J Med       Date:  2012-10-03       Impact factor: 91.245

5.  The epilepsy phenome/genome project.

Authors:  Bassel Abou-Khalil; Brian Alldredge; Jocelyn Bautista; Sam Berkovic; Judith Bluvstein; Alex Boro; Gregory Cascino; Damian Consalvo; Sabrina Cristofaro; Patricia Crumrine; Orrin Devinsky; Dennis Dlugos; Michael Epstein; Robyn Fahlstrom; Miguel Fiol; Nathan Fountain; Kristen Fox; Jacqueline French; Catharine Freyer Karn; Daniel Friedman; Eric Geller; Tracy Glauser; Simon Glynn; Kevin Haas; Sheryl Haut; Jean Hayward; Sandra Helmers; Sucheta Joshi; Andres Kanner; Heidi Kirsch; Robert Knowlton; Eric Kossoff; Rachel Kuperman; Ruben Kuzniecky; Daniel Lowenstein; Shannon McGuire; Paul Motika; Gerard Nesbitt; Edward Novotny; Ruth Ottman; Juliann Paolicchi; Jack Parent; Kristen Park; Annapurna Poduri; Neil Risch; Lynette Sadleir; Ingrid Scheffer; Renee Shellhaas; Elliott Sherr; Jerry J Shih; Shlomo Shinnar; Rani Singh; Joseph Sirven; Michael Smith; Joe Sullivan; Liu Lin Thio; Anu Venkat; Eileen Vining; Gretchen von Allmen; Judith Weisenberg; Peter Widdess-Walsh; Melodie Winawer
Journal:  Clin Trials       Date:  2013-07-01       Impact factor: 2.486

6.  Epi4K: gene discovery in 4,000 genomes.

Authors: 
Journal:  Epilepsia       Date:  2012-05-29       Impact factor: 5.864

7.  Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

Authors:  Brian J O'Roak; Laura Vives; Santhosh Girirajan; Emre Karakoc; Niklas Krumm; Bradley P Coe; Roie Levy; Arthur Ko; Choli Lee; Joshua D Smith; Emily H Turner; Ian B Stanaway; Benjamin Vernot; Maika Malig; Carl Baker; Beau Reilly; Joshua M Akey; Elhanan Borenstein; Mark J Rieder; Deborah A Nickerson; Raphael Bernier; Jay Shendure; Evan E Eichler
Journal:  Nature       Date:  2012-04-04       Impact factor: 49.962

8.  Rate of de novo mutations and the importance of father's age to disease risk.

Authors:  Augustine Kong; Michael L Frigge; Gisli Masson; Soren Besenbacher; Patrick Sulem; Gisli Magnusson; Sigurjon A Gudjonsson; Asgeir Sigurdsson; Aslaug Jonasdottir; Adalbjorg Jonasdottir; Wendy S W Wong; Gunnar Sigurdsson; G Bragi Walters; Stacy Steinberg; Hannes Helgason; Gudmar Thorleifsson; Daniel F Gudbjartsson; Agnar Helgason; Olafur Th Magnusson; Unnur Thorsteinsdottir; Kari Stefansson
Journal:  Nature       Date:  2012-08-23       Impact factor: 49.962

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

  9 in total
  4 in total

Review 1.  Early-onset epileptic encephalopathies and the diagnostic approach to underlying causes.

Authors:  Su-Kyeong Hwang; Soonhak Kwon
Journal:  Korean J Pediatr       Date:  2015-11-22

Review 2.  Voltage-Gated Na+ Channels: Not Just for Conduction.

Authors:  Larisa C Kruger; Lori L Isom
Journal:  Cold Spring Harb Perspect Biol       Date:  2016-06-01       Impact factor: 10.005

Review 3.  Network science for the identification of novel therapeutic targets in epilepsy.

Authors:  Rod C Scott
Journal:  F1000Res       Date:  2016-05-16

Review 4.  Precision in pediatric epilepsy.

Authors:  Priya Sharma; Ammar Hussain; Robert Greenwood
Journal:  F1000Res       Date:  2019-02-06
  4 in total

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