Novel and de novo point and large microdeletion mutation in PRRT2 ‐related epilepsy-Reference-Cited by-同舟云学术

Novel and de novo point and large microdeletion mutation in PRRT2 ‐related epilepsy

Published:2020-03-31 Issue:5 Volume:10 Page:
ISSN:2162-3279
Container-title:Brain and Behavior
language:en
Short-container-title:Brain Behav

Author:

Yang Li¹²^ORCID,You Cuiping³,Qiu Shiyan²,Yang Xiaofan¹,Li Yufen²,Liu Feng⁴,Zhang Dongqing¹,Niu Yue¹,Xu Liyun²⁵,Xu Na²,Li Xia²,Luo Fang⁶,Yang Junli¹,Li Baomin¹^ORCID

Affiliation:

1. Department of Pediatrics Qilu Hospital of Shandong University Jinan China

2. Department of Pediatrics Linyi People’s Hospital Affiliated to Shandong University Linyi China

3. Central Laboratory Linyi People’s Hospital Affiliated to Shandong University Linyi China

4. Department of Neurology Zibo Zhangdian Hospital of Traditional Chinese Medicine Zibo China

5. Department of Pediatrics Shandong medical college Linyi China

6. MyGenostics Inc Beijing China

Funder

National Natural Science Foundation of China

Natural Science Foundation of Shandong Province

China Postdoctoral Science Foundation

Publisher

Wiley

Subject

Behavioral Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/brb3.1597

Reference38 articles.

1. Atypical neural variability in carriers of 16p11.2 copy number variants;Al‐Jawahiri R.;Autism Research,2019

2. Adolescent with a schizophreniform disorder and recurrent 16p11.2 duplication;Castelein L.;Tijdschrift Psychiatrie,2019

3. Progressive ataxia related to PRRT2 gene mutation;Castelnovo G.;Journal of the Neurological Sciences,2016

4. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia;Chen W.‐J.;Nature Genetics,2011

5. PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine;Cloarec R.;Neurology,2012

Cited by 16 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. Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study;International Journal of Molecular Sciences;2024-01-19

2. Paroxysmal movement disorders;Handbook of Clinical Neurology;2024

3. Next-generation variant exon screening: Moving forward in routine genetic disease investigations;Genetics in Medicine Open;2024

4. Levetiracetam may be an unsuitable choice for patients with PRRT2-associated self-limited infantile epilepsy;BMC Pediatrics;2023-10-25