Preliminary report for Epilepsia Open A case of West syndrome with severe global developmental delay and confirmed KIF5A gene variant-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Preliminary report for Epilepsia Open A case of West syndrome with severe global developmental delay and confirmed KIF5A gene variant

Published:2021-01-07 Issue:1 Volume:6 Page:230-234
ISSN:2470-9239
Container-title:Epilepsia Open
language:en
Short-container-title:Epilepsia Open

Author:

Fukuoka Masataka¹^ORCID,Okazaki Shin¹,Kim Kiyohiro¹,Nukui Megumi¹,Inoue Takeshi¹^ORCID,Kuki Ichiro¹,Kawawaki Hisashi¹,Nakashima Mitsuko²³,Matsumoto Naomichi³^ORCID

Affiliation:

1. Department of Pediatric Neurology Osaka City General Hospital Osaka Japan

2. Department of Biochemistry Hamamatsu University School of Medicine Hamamatsu Japan

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

Funder

Takeda Science Foundation

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/epi4.12431

Reference14 articles.

1. Kinesin superfamily motor proteins and intracellular transport

2. Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy

3. KIF5Amutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction

4. KIF5A de novomutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy

5. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

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