Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Palmer, E. E., Pusch, M., Picollo, A., Forwood, C., Nguyen, M. H., Suckow, V., Gibbons, J., Hoff, A., Sigfrid, L., Megarbane, A., Nizon, M., Cogné, B., Beneteau, C., Alkuraya, F. S., Chedrawi, A., Hashem, M. O., Stamberger, H., Weckhuysen, S., Vanlander, A., … Kalscheuer, V. M. (2022). Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition. Molecular Psychiatry, 28(2), 668–697. https://doi.org/10.1038/s41380-022-01852-9
Authors:
Elizabeth E Palmer
Michael Pusch
Alessandra Picollo
Caitlin Forwood
Matthew H Nguyen
Vanessa Suckow
Jessica Gibbons
Alva Hoff
Lisa Sigfrid
Andre Megarbane
Mathilde Nizon
Benjamin Cogné
Claire Beneteau
Fowzan S Alkuraya
Aziza Chedrawi
Mais O Hashem
Hannah Stamberger
Sarah Weckhuysen
Arnaud Vanlander
Berten Ceulemans
Sulekha Rajagopalan
Kenneth Nunn
Stéphanie Arpin
Martine Raynaud
Constance S Motter
Catherine Ward-Melver
Katrien Janssens
Marije Meuwissen
Diane Beysen
Nicola Dikow
Mona Grimmel
Tobias B Haack
Emma Clement
Amy McTague
David Hunt
Sharron Townshend
Michelle Ward
Linda J Richards
Cas Simons
Gregory Costain
Lucie Dupuis
Roberto Mendoza-Londono
Tracy Dudding-Byth
Jackie Boyle
Carol Saunders
Emily Fleming
Salima El Chehadeh
Marie-Aude Spitz
Amelie Piton
Bénédicte Gerard
Marie-Thérèse Abi Warde
Gillian Rea
Caoimhe McKenna
Sofia Douzgou
Siddharth Banka
Cigdem Akman
Jennifer M Bain
Tristan T Sands
Golder N Wilson
Erin J Silvertooth
Lauren Miller
Damien Lederer
Rani Sachdev
Rebecca Macintosh
Olivier Monestier
Deniz Karadurmus
Felicity Collins
Melissa Carter
Luis Rohena
Marjolein H Willemsen
Charlotte W Ockeloen
Rolph Pfundt
Sanne D Kroft
Michael Field
Francisco E R Laranjeira
Ana M Fortuna
Ana R Soares
Vincent Michaud
Sophie Naudion
Sailaja Golla
David D Weaver
Lynne M Bird
Jennifer Friedman
Virginia Clowes
Shelagh Joss
Laura Pölsler
Philippe M Campeau
Maria Blazo
Emilia K Bijlsma
Jill A Rosenfeld
Christian Beetz
Zöe Powis
Kirsty McWalter
Tracy Brandt
Erin Torti
Mikaël Mathot
Shekeeb S Mohammad
Ruth Armstrong
Vera M Kalscheuer
Affiliated Authors:
Cigdem Akman
Jennifer M Bain
Tristan T Sands
Columbia Affiliation:
Subjects:
Glycogen Metabolism and Myoclonic Disorders (OpenAlex Topic)
Deep Brain Stimulation for Neurological Disorders (OpenAlex Topic)
Molecular Basis of Rett Syndrome and Related Disorders (OpenAlex Topic)
Neurodevelopmental Disorders (MeSH)
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Publication Type:
Article
Unique ID:
10.1038/s41380-022-01852-9
PMID:
36385166
DOI:
10.1038/s41380-022-01852-9
Journal:
Molecular Psychiatry
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
View Scopus Record
View OpenAlex Record
View Web of Science Record

Record Created: