A Rare Case of Lethal Neonatal Rigidity and Multi-Focal Seizure Syndrome
Author:
Publisher
Cureus, Inc.
Subject
Aerospace Engineering
Reference10 articles.
1. Lethal neonatal rigidity and multifocal seizure syndrome--a misnamed disorder?;Hanes I;Pediatr Neurol,2015
2. Genetic mapping and exome sequencing identify variants associated with five novel diseases;Puffenberger EG;PLoS One,2012
3. Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay;Ansar M;Genet Med,2018
4. Diagnostic approach to genetic causes of early-onset epileptic encephalopathy;Gürsoy S;J Child Neurol,2016
5. Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units;Saunders CJ;Sci Transl Med,2012
Cited by 8 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Neuronal differentiation requires BRAT1 complex to remove REST from chromatin;Proceedings of the National Academy of Sciences;2024-05-28
2. Clinical characteristics of BRAT1-related disease: a systematic literature review;Acta Neurologica Belgica;2024-04-12
3. BRAT1 associates with INTS11/INTS9 heterodimer to regulate key neurodevelopmental genes;2023-08-10
4. BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients;European Journal of Human Genetics;2023-06-21
5. Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy;Neurology;2023-03-21
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