PCDH19-related female-limited epilepsy: Further details regarding early clinical features and therapeutic efficacy

Author:

Higurashi Norimichi,Nakamura Mai,Sugai Misaki,Ohfu Masaharu,Sakauchi Masako,Sugawara Yuji,Nakamura Kazuyuki,Kato Mitsuhiro,Usui Daisuke,Mogami Yukiko,Fujiwara Yumi,Ito Tomoshiro,Ikeda Hiroko,Imai Katsumi,Takahashi Yukitoshi,Nukui Megumi,Inoue Takeshi,Okazaki Shin,Kirino Tomoko,Tomonoh Yuko,Inoue Takahito,Takano Kyoko,Shimakawa Shuichi,Hirose Shinichi

Funder

Grant-in-Aids for Scientific Research (A)

Challenging Exploratory Research

Japan Society for the Promotion of Science (JSPS)

Ministry of Education, Culture, Sports, Science and Technology

Research Grants for Nervous and Mental Disorder

Health and Labour Science Research Grants

Grant-in-Aid for the Research on Measures for Intractable Diseases

Grant-in-Aid for Adaptable and Seamless Technology Transfer Program through Target-driven R&D (A-STEP) Exploratory Research

Japan Epilepsy Research Foundation

Central Research Institute for the Molecular Pathomechanisms of Epilepsy of Fukuoka University and Recommended Projects from Fukuoka University

Publisher

Elsevier BV

Subject

Clinical Neurology,Neurology

Reference22 articles.

1. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation;Allen;Am. J. Hum. Genet.,1992

2. Diagnostic and Statistical Manual of Mental Disorders: DSM-IV-TR;American Psychiatric Association,2000

3. A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility;Bione;Am. J. Hum. Genet.,1998

4. Current therapeutic procedures in Dravet syndrome;Chiron;Dev. Med. Child Neurol.,2011

5. Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females;Depienne;PLoS Genet.,2009

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3