Two siblings suffering from Angelman Syndrome with a novel c.1146T>G mutation in UBE3A: A case report-Reference-Cited by-同舟云学术

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Two siblings suffering from Angelman Syndrome with a novel c.1146T>G mutation in UBE3A: A case report

Published:2022-04-19 Issue:6 Volume:16 Page:
ISSN:2049-9434
Container-title:Biomedical Reports
language:
Short-container-title:Biomed Rep

Author:

Liu Can¹,Liu Rui-Hua²,Sun Guang-Fei²,Yang Lin²,Zheng Qin-Liang²,Wei Shan-Ying²,Kong Qing-Xia³,Li Qiu-Bo²

Affiliation:

1. Jining Medical University, Jining, Shandong 272000, P.R. China

2. Department of Pediatrics, Affiliated Hospital of Jining Medical University, Jining, Shandong 272000, P.R. China

3. Department of Neurology, Affiliated Hospital of Jining Medical University, Jining, Shandong 272000, P.R. China

Publisher

Spandidos Publications

Subject

General Pharmacology, Toxicology and Pharmaceutics,General Biochemistry, Genetics and Molecular Biology,General Medicine,General Neuroscience

Reference20 articles.

1. Abundance and localization of human UBE3A protein isoforms;Sirois;Hum Mol Genet,2020

2. Towards an understanding of angelman syndrome in mice studies;Yang;J Neurosci Res,2020

3. Angelman syndrome presenting with a rare seizure type in a patient with 15q11.2 deletion: A case report;Ranasinghe;J Med Case Rep,2015

4. A novel intronic variant in UBE3A identified by genome sequencing in a patient with an atypical presentation of Angelman syndrome;Curtis;Am J Med Genet A,2020

5. Angelman syndrome: Identification and management;Bonello;Neonatal Netw,2017

Cited by 1 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. Neural hyperexcitability in Angelman syndrome: Genetic factors and pharmacologic treatment approaches;Epilepsy Research;2024-02

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