De Novo Mutations inSLC35A2Encoding a UDP-Galactose Transporter Cause Early-Onset Epileptic Encephalopathy-Reference-Cited by-同舟云学术

De Novo Mutations inSLC35A2Encoding a UDP-Galactose Transporter Cause Early-Onset Epileptic Encephalopathy

Published:2013-10-15 Issue:12 Volume:34 Page:1708-1714
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Kodera Hirofumi¹,Nakamura Kazuyuki¹²,Osaka Hitoshi³,Maegaki Yoshihiro⁴,Haginoya Kazuhiro⁵⁶,Mizumoto Shuji⁷,Kato Mitsuhiro²,Okamoto Nobuhiko⁸,Iai Mizue³,Kondo Yukiko¹,Nishiyama Kiyomi¹,Tsurusaki Yoshinori¹,Nakashima Mitsuko¹,Miyake Noriko¹,Hayasaka Kiyoshi²,Sugahara Kazuyuki⁷,Yuasa Isao⁹,Wada Yoshinao¹⁰,Matsumoto Naomichi¹,Saitsu Hirotomo¹

Affiliation:

1. Department of Human Genetics; Yokohama City University Graduate School of Medicine; Kanazawa-ku Yokohama 236-0004 Japan

2. Department of Pediatrics; Yamagata University School of Medicine; Yamagata 990-9585 Japan

3. Division of Neurology; Clinical Research Institute, Kanagawa Children's Medical Center; Minami-ku Yokohama 232-8555 Japan

4. Division of Child Neurology; Faculty of Medicine, Tottori University; Yonago 683-8504 Japan

5. Department of Pediatrics; Tohoku University School of Medicine; Aoba-ku Sendai 980-8574 Japan

6. Department of Pediatric Neurology; Takuto Rehabilitation Center for Children; Taihaku-ku Sendai 982-0241 Japan

7. Laboratory of Proteoglycan Signaling and Therapeutics; Frontier Research Center for Post-Genomic Science and Technology; Graduate School of Life Science; Hokkaido University; Sapporo 001-0021 Japan

8. Department of Medical Genetics; Osaka Medical Center and Research Institute for Maternal and Child Health; Izumi Osaka 594-1101 Japan

9. Division of Legal Medicine; Faculty of Medicine, Tottori University; Yonago 683-8503 Japan

10. Department of Molecular Medicine; Osaka Medical Center and Research Institute for Maternal and Child Health; Izumi Osaka 594-1101 Japan

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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2. De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy;Barcia;Nat Genet,2012

3. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy;Claes;Am J Hum Genet,2001

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

5. Genetic defects in the human glycome;Freeze;Nat Rev Genet,2006

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