Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy-Reference-Cited by-同舟云学术

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy

Published:2013-05-10 Issue:7 Volume:54 Page:1262-1269
ISSN:0013-9580
Container-title:Epilepsia
language:en
Short-container-title:Epilepsia

Author:

Kodera Hirofumi¹,Kato Mitsuhiro²,Nord Alex S.³,Walsh Tom³,Lee Ming³,Yamanaka Gaku⁴,Tohyama Jun⁵,Nakamura Kazuyuki¹²,Nakagawa Eiji⁶,Ikeda Tae⁷,Ben-Zeev Bruria⁸,Lev Dorit⁹,Lerman-Sagie Tally⁹,Straussberg Rachel¹⁰,Tanabe Saori¹¹,Ueda Kazutoshi¹²,Amamoto Masano¹³,Ohta Sayaka¹⁴,Nonoda Yutaka¹⁵,Nishiyama Kiyomi¹,Tsurusaki Yoshinori¹,Nakashima Mitsuko¹,Miyake Noriko¹,Hayasaka Kiyoshi²,King Mary-Claire³,Matsumoto Naomichi¹,Saitsu Hirotomo¹

Affiliation:

1. Department of Human Genetics; Yokohama City University Graduate School of Medicine; Yokohama Japan

2. Department of Pediatrics; Yamagata University Faculty of Medicine; Yamagata Japan

3. Department of Genome Sciences and Department of Medicine; University of Washington; Seattle Washington U.S.A

4. Department of Pediatrics; Tokyo Medical University; Tokyo Japan

5. Department of Pediatrics; Nishi-Niigata Chuo National Hospital; Niigata Japan

6. Department of Child Neurology; National Center of Neurology and Psychiatry; Tokyo Japan

7. Division of Pediatric Neurology; Osaka Medical Center and Research Institute for Maternal and Child Health; Osaka Japan

8. The Edmond and Lily Safra Children's Hospital; Sheba Medical Center; Ramat Gan Israel

9. Metabolic Neurogenetic Clinic; Wolfson Medical Center; Holon Israel

10. Department of Neurogenetics; Schneider's Children Medical Center; Petah Tiqwa Israel

11. Department of Pediatrics; Nihonkai General Hospital; Sakata Japan

12. Department of Pediatrics; Kitano Hospital; Osaka Japan

13. Pediatric Emergency Center; Kitakyusyu City Yahata Hospital; Kitakyushu Japan

14. Department of Pediatrics; Graduate School of Medicine; University of Tokyo; Tokyo Japan

15. Department of Pediatrics; School of Medicine; Kitasato University; Sagamihara Japan

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/epi.12203/fullpdf

Reference36 articles.

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2. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009;Berg;Epilepsia,2010

3. A potassium channel mutation in neonatal human epilepsy;Biervert;Science,1998

4. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family;Charlier;Nat Genet,1998

5. A framework for variation discovery and genotyping using next-generation DNA sequencing data;DePristo;Nat Genet,2011

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