Clinical and genetic investigation of 17 Japanese patients with hyperekplexia-Reference-Cited by-同舟云学术

Clinical and genetic investigation of 17 Japanese patients with hyperekplexia

Published:2014-10-30 Issue:4 Volume:57 Page:372-377
ISSN:0012-1622
Container-title:Developmental Medicine & Child Neurology
language:en
Short-container-title:Dev Med Child Neurol

Author:

Mine Jun¹,Taketani Takeshi¹²,Yoshida Kazushi³,Yokochi Fusako⁴,Kobayashi Junpei⁴,Maruyama Koichi⁵,Nanishi Etsuro⁶,Ono Mayumi⁷,Yokoyama Atsushi⁸,Arai Hidee⁹,Tamaura Shiho¹⁰,Suzuki Yasuhiro¹¹,Otsubo Shusuke¹²,Hayashi Takashi¹³,Kimura Masahiko¹⁴,Kishi Kazuko¹,Yamaguchi Seiji¹

Affiliation:

1. Department of Pediatrics; Shimane University Faculty of Medicine; Izumo Japan

2. Division of Blood Transfusion; Shimane University Hospital; Izumo Japan

3. Department of Pediatrics; Matsudo City Hospital; Matsudo Japan

4. Department of Neurology; Tokyo Metropolitan Neurological Hospital; Fuchu Japan

5. Department of Pediatric Neurology; Central Hospital; Aichi Welfare Center for Persons with Developmental Disabilities; Kasugai Japan

6. Department of Pediatrics; Yamaguchi Red Cross Hospital; Yamaguchi Japan

7. Department of Pediatrics; Sapporo Medical University; Sapporo Japan

8. Division of Child Neurology; Institute of Neurological Science; Faculty of Medicine; Tottori University; Yonago Japan

9. Department of Neurology; Chiba Children's Hospital; Chiba Japan

10. Department of Pediatrics; JA Onomichi Hospital; Onomichi Japan

11. Department of Pediatric Neurology; Osaka Medical Center and Research Institute for Maternal and Child Health; Izumi Japan

12. Otsubo Kodomo Clinic; Kagoshima Japan

13. Department of Developmental Medicine; Nishikawa Clinic; Ube Japan

14. Kimura Children and Family Clinic; Izumo Japan

Publisher

Wiley

Subject

Clinical Neurology,Developmental Neuroscience,Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/dmcn.12617/fullpdf

Reference13 articles.

1. Startle syndromes;Bakker;Lancet Neurol,2006

2. The genetics of hyperekplexia: more than startle!;Harvey;Trends Genet,2008

3. Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay;Thomas;Brain,2013

4. GLRB is the third major gene of effect in hyperekplexia;Chung;Hum Mol Genet,2013

5. Hyperekplexia associated with compound heterozygote mutations in the α-subunit of the human inhibitory glycine receptor (GLRB);Rees;Hum Mol Genet,2002

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