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

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

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DOI: 10.1038/s41380-022-01852-9
Published: 2022-11-16
Container: Molecular Psychiatry
Publisher: Springer Science and Business Media LLC
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1038/s41380-022-01852-9,
title = {Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition},
author = {Elizabeth E. Palmer and Michael Pusch and Alessandra Picollo and Caitlin Forwood and Matthew H. Nguyen and Vanessa Suckow and Jessica Gibbons and Alva Hoff and Lisa Sigfrid and Andre Megarbane and Mathilde Nizon and Benjamin Cogné and Claire Beneteau and Fowzan S. Alkuraya and Aziza Chedrawi and Mais O. Hashem and Hannah Stamberger and Sarah Weckhuysen and Arnaud Vanlander and Berten Ceulemans and Sulekha Rajagopalan and Kenneth Nunn and Stéphanie Arpin and Martine Raynaud and Constance S. Motter and Catherine Ward-Melver and Katrien Janssens and Marije Meuwissen and Diane Beysen and Nicola Dikow and Mona Grimmel and Tobias B. Haack and Emma Clement and Amy McTague and David Hunt and Sharron Townshend and Michelle Ward and Linda J. Richards and Cas Simons and Gregory Costain and Lucie Dupuis and Roberto Mendoza-Londono and Tracy Dudding-Byth and Jackie Boyle and Carol Saunders and Emily Fleming and Salima El Chehadeh and Marie-Aude Spitz and Amelie Piton and Bénédicte Gerard and Marie-Thérèse Abi Warde and Gillian Rea and Caoimhe McKenna and Sofia Douzgou and Siddharth Banka and Cigdem Akman and Jennifer M. Bain and Tristan T. Sands and Golder N. Wilson and Erin J. Silvertooth and Lauren Miller and Damien Lederer and Rani Sachdev and Rebecca Macintosh and Olivier Monestier and Deniz Karadurmus and Felicity Collins and Melissa Carter and Luis Rohena and Marjolein H. Willemsen and Charlotte W. Ockeloen and Rolph Pfundt and Sanne D. Kroft and Michael Field and Francisco E. R. Laranjeira and Ana M. Fortuna and Ana R. Soares and Vincent Michaud and Sophie Naudion and Sailaja Golla and David D. Weaver and Lynne M. Bird and Jennifer Friedman and Virginia Clowes and Shelagh Joss and Laura Pölsler and Philippe M. Campeau and Maria Blazo and Emilia K. Bijlsma and Jill A. Rosenfeld and Christian Beetz and Zöe Powis and Kirsty McWalter and Tracy Brandt and Erin Torti and Mikaël Mathot and Shekeeb S. Mohammad and Ruth Armstrong and Vera M. Kalscheuer},
year = {2022},
journal = {Molecular Psychiatry},
doi = {10.1038/s41380-022-01852-9},
url = {https://doi.org/10.1038/s41380-022-01852-9}
}

RIS

TY  - JOUR
TI  - Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
AU  - Elizabeth E. Palmer
AU  - Michael Pusch
AU  - Alessandra Picollo
AU  - Caitlin Forwood
AU  - Matthew H. Nguyen
AU  - Vanessa Suckow
AU  - Jessica Gibbons
AU  - Alva Hoff
AU  - Lisa Sigfrid
AU  - Andre Megarbane
AU  - Mathilde Nizon
AU  - Benjamin Cogné
AU  - Claire Beneteau
AU  - Fowzan S. Alkuraya
AU  - Aziza Chedrawi
AU  - Mais O. Hashem
AU  - Hannah Stamberger
AU  - Sarah Weckhuysen
AU  - Arnaud Vanlander
AU  - Berten Ceulemans
AU  - Sulekha Rajagopalan
AU  - Kenneth Nunn
AU  - Stéphanie Arpin
AU  - Martine Raynaud
AU  - Constance S. Motter
AU  - Catherine Ward-Melver
AU  - Katrien Janssens
AU  - Marije Meuwissen
AU  - Diane Beysen
AU  - Nicola Dikow
AU  - Mona Grimmel
AU  - Tobias B. Haack
AU  - Emma Clement
AU  - Amy McTague
AU  - David Hunt
AU  - Sharron Townshend
AU  - Michelle Ward
AU  - Linda J. Richards
AU  - Cas Simons
AU  - Gregory Costain
AU  - Lucie Dupuis
AU  - Roberto Mendoza-Londono
AU  - Tracy Dudding-Byth
AU  - Jackie Boyle
AU  - Carol Saunders
AU  - Emily Fleming
AU  - Salima El Chehadeh
AU  - Marie-Aude Spitz
AU  - Amelie Piton
AU  - Bénédicte Gerard
AU  - Marie-Thérèse Abi Warde
AU  - Gillian Rea
AU  - Caoimhe McKenna
AU  - Sofia Douzgou
AU  - Siddharth Banka
AU  - Cigdem Akman
AU  - Jennifer M. Bain
AU  - Tristan T. Sands
AU  - Golder N. Wilson
AU  - Erin J. Silvertooth
AU  - Lauren Miller
AU  - Damien Lederer
AU  - Rani Sachdev
AU  - Rebecca Macintosh
AU  - Olivier Monestier
AU  - Deniz Karadurmus
AU  - Felicity Collins
AU  - Melissa Carter
AU  - Luis Rohena
AU  - Marjolein H. Willemsen
AU  - Charlotte W. Ockeloen
AU  - Rolph Pfundt
AU  - Sanne D. Kroft
AU  - Michael Field
AU  - Francisco E. R. Laranjeira
AU  - Ana M. Fortuna
AU  - Ana R. Soares
AU  - Vincent Michaud
AU  - Sophie Naudion
AU  - Sailaja Golla
AU  - David D. Weaver
AU  - Lynne M. Bird
AU  - Jennifer Friedman
AU  - Virginia Clowes
AU  - Shelagh Joss
AU  - Laura Pölsler
AU  - Philippe M. Campeau
AU  - Maria Blazo
AU  - Emilia K. Bijlsma
AU  - Jill A. Rosenfeld
AU  - Christian Beetz
AU  - Zöe Powis
AU  - Kirsty McWalter
AU  - Tracy Brandt
AU  - Erin Torti
AU  - Mikaël Mathot
AU  - Shekeeb S. Mohammad
AU  - Ruth Armstrong
AU  - Vera M. Kalscheuer
PY  - 2022
JO  - Molecular Psychiatry
DO  - 10.1038/s41380-022-01852-9
UR  - https://doi.org/10.1038/s41380-022-01852-9
ER  -

APA

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., Ceulemans, B., Rajagopalan, S., Nunn, K., Arpin, S., Raynaud, M., Motter, C. S., Ward-Melver, C., Janssens, K., Meuwissen, M., Beysen, D., Dikow, N., Grimmel, M., Haack, T. B., Clement, E., McTague, A., Hunt, D., Townshend, S., Ward, M., Richards, L. J., Simons, C., Costain, G., Dupuis, L., Mendoza-Londono, R., Dudding-Byth, T., Boyle, J., Saunders, C., Fleming, E., Chehadeh, S. E., Spitz, M., Piton, A., Gerard, B., Warde, M. A., Rea, G., McKenna, C., Douzgou, S., Banka, S., Akman, C., Bain, J. M., Sands, T. T., Wilson, G. N., Silvertooth, E. J., Miller, L., Lederer, D., Sachdev, R., Macintosh, R., Monestier, O., Karadurmus, D., Collins, F., Carter, M., Rohena, L., Willemsen, M. H., Ockeloen, C. W., Pfundt, R., Kroft, S. D., Field, M., Laranjeira, F. E. R., Fortuna, A. M., Soares, A. R., Michaud, V., Naudion, S., Golla, S., Weaver, D. D., Bird, L. M., Friedman, J., Clowes, V., Joss, S., Pölsler, L., Campeau, P. M., Blazo, M., Bijlsma, E. K., Rosenfeld, J. A., Beetz, C., Powis, Z., McWalter, K., Brandt, T., Torti, E., Mathot, M., Mohammad, S. S., Armstrong, R., & Kalscheuer, V. M. (2022). Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition. Molecular Psychiatry. https://doi.org/10.1038/s41380-022-01852-9

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crossref · retrieved 2026-09-25T22:46:09.370Z