Epilepsy and genetic in Rett syndrome: A review-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Epilepsy and genetic in Rett syndrome: A review

Published:2019-03-30 Issue:5 Volume:9 Page:e01250
ISSN:2162-3279
Container-title:Brain and Behavior
language:en
Short-container-title:Brain Behav

Author:

Operto Francesca Felicia¹^ORCID,Mazza Roberta¹,Pastorino Grazia Maria Giovanna²^ORCID,Verrotti Alberto³,Coppola Giangennaro²

Affiliation:

1. Child Neuropsychiatry Unit, Department of Basic Medical Sciences, Neuroscience and Sense Organs University of Bari “Aldo Moro” Bari Italy

2. Child and Adolescent Neuropsychiatry, Medical School University of Salerno Fisciano Italy

3. Department of Pediatrics University of L'Aquila Coppito Italy

Publisher

Wiley

Subject

Behavioral Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/brb3.1250

Reference72 articles.

1. Rett‐like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5 ‐related disease

2. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

3. FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome

4. Exome sequencing identifies a de novoSCN2Amutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities

5. The three stages of epilepsy in patients withCDKL5mutations

Cited by 57 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. Rett syndrome due to mutation in the MECP2 gene and electroencephalographic findings;Arquivos de Neuro-Psiquiatria;2024-07-29

2. Characterizing the journey of Rett syndrome among females in the United States: a real-world evidence study using the Rett syndrome natural history study database;Journal of Neurodevelopmental Disorders;2024-07-26

3. Novel Variant ANKRD11 Gene Mutation Associated With Drug-Resistant Epilepsy in KBG Syndrome Phenotype;Pediatric Neurology;2024-06

4. Epigenetic control of adaptive or homeostatic splicing during interval-training activities;Nucleic Acids Research;2024-04-25

5. Functional Assessment and Impact of Seizures on Cognitive Outcome in a Cohort of Individuals with KBG Syndrome;2024-04-18

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