Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy-Reference-Cited by-同舟云学术

Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy

Published:2024-08 Issue:4 Volume:10 Page:
ISSN:2376-7839
Container-title:Neurology Genetics
language:en
Short-container-title:Neurol Genet

Author:

Clara-Hwang Angela¹^ORCID,Stefani Stefani¹^ORCID,Lau Tracy¹^ORCID,Scala Marcello¹^ORCID,Aynekin Busra¹^ORCID,Bernardo Pia¹^ORCID,Madia Francesca¹^ORCID,Bakhtadze Sophia¹^ORCID,Kaiyrzhanov Rauan¹^ORCID,Maroofian Reza¹^ORCID,Zara Federico¹^ORCID,Srinivasan Varunvenkat M.¹^ORCID,Gowda Vykuntaraju¹^ORCID,Guliyeva Ulviyya¹^ORCID,Montavont Alexandra¹^ORCID,Poulat Anne-Lise¹^ORCID,Güleç Ayten¹^ORCID,Berger Colette¹^ORCID,Ville Dorothee M.¹^ORCID,de Bellescize Julitta¹^ORCID,Cabet Sara¹^ORCID,Wonneberger Antje¹^ORCID,Schulz Alexander¹^ORCID,Rodriguez-Palmero Agusti¹^ORCID,Chatron Nicolas¹^ORCID,Lesca Gaetan¹^ORCID,Per Hüseyin¹^ORCID,Goel Himanshu¹^ORCID,Brown Janis¹^ORCID,Frey Tanja¹^ORCID,Steindl Katharina¹^ORCID,Rauch Anita¹^ORCID,Severino Mariasavina¹^ORCID,Houlden Henry¹^ORCID,Nicolaides Paola¹^ORCID,Striano Pasquale¹^ORCID,Efthymiou Stephanie¹^ORCID

Affiliation:

1. From the Department of Neuromuscular Disorders (A.C.-H., T.L., B.A., R.K., R.M., S.E., H.H.); Department of Clinical and Experimental Epilepsy (A.C.-H.), UCL Queen Square Institute of Neurology; The Francis Crick Institute (A.C.-H.), London, United Kingdom; Cyprus Paediatric Neurology Institute (S.S., P.N.), Nicosia, Cyprus; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (M. Scala, P.S.), Università Degli Studi di Genova; U.O.C. Genetica Medica (M....

Publisher

Ovid Technologies (Wolters Kluwer Health)

Link

https://www.neurology.org/doi/pdfdirect/10.1212/NXG.0000000000200168

Reference20 articles.

1. Chromatin Remodeling Proteins in Epilepsy: Lessons From CHD2-Associated Epilepsy

2. CHD2-Related CNS Pathologies

3. Human CHD2 Is a Chromatin Assembly ATPase Regulated by Its Chromo- and DNA-binding Domains

4. The Chd family of chromatin remodelers

5. Chromatin remodeling by the CHD7 protein is impaired by mutations that cause human developmental disorders