Early‐onset West syndrome with developmental delay associated with a novel KLHL20 variant
Author:
Affiliation:
1. Division of Medical Genetics Kanagawa Children's Medical Center Yokohama Japan
2. Division of Neurology Kanagawa Children's Medical Center Yokohama Japan
3. Clinical Research Institute, Kanagawa Children's Medical Center Yokohama Japan
Funder
Japan Agency for Medical Research and Development
Ministry of Health, Labour and Welfare
Japan Society for the Promotion of Science
Publisher
Wiley
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63600
Reference8 articles.
1. Structural Basis for Recruitment of DAPK1 to the KLHL20 E3 Ligase
2. West Syndrome and Lennox-Gastaut Syndrome: A Survey of Natural History
3. The Cullin 3 substrate adaptor KLHL20 mediates DAPK ubiquitination to control interferon responses
4. PDZ-RhoGEF ubiquitination by Cullin3–KLHL20 controls neurotrophin-induced neurite outgrowth
5. Latest American and European Updates on Infantile Spasms
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