Genetic and metabolic profiling of individuals with Phelan‐McDermid syndrome presenting with seizures-Reference-Cited by-同舟云学术

Genetic and metabolic profiling of individuals with Phelan‐McDermid syndrome presenting with seizures

Published:2021-10-27 Issue:1 Volume:101 Page:87-100
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Jain Lavanya¹²^ORCID,Oberman Lindsay M.³⁴,Beamer Laura¹,Cascio Lauren¹,May Melanie¹,Srikanth Sujata¹,Skinner Cindy¹,Jones Kelly¹,Allen Bridgette²,Rogers Curtis¹,Phelan Katy⁵,Kaufmann Walter E.¹⁶⁷⁸,DuPont Barbara¹,Sarasua Sara M.²,Boccuto Luigi¹²⁹^ORCID

Affiliation:

1. Greenwood Genetic Center Greenwood South Carolina USA

2. School of Nursing, Healthcare Genetics Program Clemson University Clemson South Carolina USA

3. Henry M Jackson Foundation for the Advancement of Military Medicine Bethesda Maryland USA

4. Center for Neuroscience and Regenerative Medicine Bethesda Maryland USA

5. Genetics Laboratory Florida Cancer Specialists and Research Institute Fort Myers Florida USA

6. Department of Human Genetics Emory University School of Medicine Atlanta Georgia USA

7. Department of Neurology Boston Children's Hospital Boston Massachusetts USA

8. Anavex Life Sciences Corp New York New York USA

9. Clemson University School of Health Research Clemson South Carolina USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14074

Reference56 articles.

1. Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring

2. Disruption of the ProSAP2 Gene in a t(12;22)(q24.1;q13.3) Is Associated with the 22q13.3 Deletion Syndrome

3. Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms

4. The 22q13.3 deletion syndrome (Phelan‐McDermid syndrome);Phelan K;Mol Syndromol,2012

Cited by 10 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. Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome;Journal of Neurodevelopmental Disorders;2024-05-10

2. Evidence for common mechanisms of pathology between SHANK3 and other genes of Phelan‐McDermid syndrome;Clinical Genetics;2024-02-27

3. Living with and managing seizures among parents of children diagnosed with Phelan-McDermid syndrome: a qualitative study using in-depth interviews;European Journal of Pediatrics;2023-10-23

4. Consensus recommendations on Epilepsy in Phelan-McDermid syndrome;European Journal of Medical Genetics;2023-06

5. Sleep disturbances in Phelan‐McDermid syndrome: Clinical and metabolic profiling of 56 individuals;Clinical Genetics;2023-05-18