Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive

Katrine M. Johannesen, Khaing Phyu Aung, Vivian W.Y. Liao, Nathan Absalom, Han C. Chua, Xue N. Gan, Miaomiao Mao, Chaseley E. McKenzie, Hian M. Lee, Sebastian Ortiz, Rebecca C. Spillmann, Vandana Shashi, Rodney A. Radtke, Ghayda M. Mirzaa, P. Anne Weisner, Josue Flores Daboub, Caroline Hagedorn, Pinar Bayrak-Toydemir, Desiree DeMille, Jian Zhao, Nandita Bajaj, Yline Capri, Boris Keren, Miriam Schmidts, Ingrid M.B.H. van de Laar, Marjon A. van Slegtenhorst, Rafal Ploski, Marta Bogotko, Danielle K. Bourque, Ebba Alkhunaizi, Lauren Chad, Nada Quercia, Houda Elloumi, Ingrid M. Wentzensen, Michael C. Kruer, Pritha Bisarad, Carolina I. Galaz-Montoya, Violeta Rusu, Dominique Braun, Katie Angione, Jessica C. Win, Camilo Espinosa-Jovel, Pia Zacher, Konrad Platzer, Samuel F. Berkovic, Ingrid E. Scheffer, Mary Chebib, Guido Rubboli, Rikke S. Møller, Christopher A. Reid, Philip K. Ahring

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DOI: 10.1172/jci189830
Published: 2025-11-25
Container: Journal of Clinical Investigation
Publisher: American Society for Clinical Investigation
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1172/jci189830,
  title = {Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive},
  author = {Katrine M. Johannesen and Khaing Phyu Aung and Vivian W.Y. Liao and Nathan Absalom and Han C. Chua and Xue N. Gan and Miaomiao Mao and Chaseley E. McKenzie and Hian M. Lee and Sebastian Ortiz and Rebecca C. Spillmann and Vandana Shashi and Rodney A. Radtke and Ghayda M. Mirzaa and P. Anne Weisner and Josue Flores Daboub and Caroline Hagedorn and Pinar Bayrak-Toydemir and Desiree DeMille and Jian Zhao and Nandita Bajaj and Yline Capri and Boris Keren and Miriam Schmidts and Ingrid M.B.H. van de Laar and Marjon A. van Slegtenhorst and Rafal Ploski and Marta Bogotko and Danielle K. Bourque and Ebba Alkhunaizi and Lauren Chad and Nada Quercia and Houda Elloumi and Ingrid M. Wentzensen and Michael C. Kruer and Pritha Bisarad and Carolina I. Galaz-Montoya and Violeta Rusu and Dominique Braun and Katie Angione and Jessica C. Win and Camilo Espinosa-Jovel and Pia Zacher and Konrad Platzer and Samuel F. Berkovic and Ingrid E. Scheffer and Mary Chebib and Guido Rubboli and Rikke S. Møller and Christopher A. Reid and Philip K. Ahring},
  year = {2025},
  journal = {Journal of Clinical Investigation},
  doi = {10.1172/jci189830},
  url = {https://doi.org/10.1172/jci189830}
}

RIS

TY  - JOUR
TI  - Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive
AU  - Katrine M. Johannesen
AU  - Khaing Phyu Aung
AU  - Vivian W.Y. Liao
AU  - Nathan Absalom
AU  - Han C. Chua
AU  - Xue N. Gan
AU  - Miaomiao Mao
AU  - Chaseley E. McKenzie
AU  - Hian M. Lee
AU  - Sebastian Ortiz
AU  - Rebecca C. Spillmann
AU  - Vandana Shashi
AU  - Rodney A. Radtke
AU  - Ghayda M. Mirzaa
AU  - P. Anne Weisner
AU  - Josue Flores Daboub
AU  - Caroline Hagedorn
AU  - Pinar Bayrak-Toydemir
AU  - Desiree DeMille
AU  - Jian Zhao
AU  - Nandita Bajaj
AU  - Yline Capri
AU  - Boris Keren
AU  - Miriam Schmidts
AU  - Ingrid M.B.H. van de Laar
AU  - Marjon A. van Slegtenhorst
AU  - Rafal Ploski
AU  - Marta Bogotko
AU  - Danielle K. Bourque
AU  - Ebba Alkhunaizi
AU  - Lauren Chad
AU  - Nada Quercia
AU  - Houda Elloumi
AU  - Ingrid M. Wentzensen
AU  - Michael C. Kruer
AU  - Pritha Bisarad
AU  - Carolina I. Galaz-Montoya
AU  - Violeta Rusu
AU  - Dominique Braun
AU  - Katie Angione
AU  - Jessica C. Win
AU  - Camilo Espinosa-Jovel
AU  - Pia Zacher
AU  - Konrad Platzer
AU  - Samuel F. Berkovic
AU  - Ingrid E. Scheffer
AU  - Mary Chebib
AU  - Guido Rubboli
AU  - Rikke S. Møller
AU  - Christopher A. Reid
AU  - Philip K. Ahring
PY  - 2025
JO  - Journal of Clinical Investigation
DO  - 10.1172/jci189830
UR  - https://doi.org/10.1172/jci189830
ER  -

APA

Johannesen, K. M., Aung, K. P., Liao, V. W., Absalom, N., Chua, H. C., Gan, X. N., Mao, M., McKenzie, C. E., Lee, H. M., Ortiz, S., Spillmann, R. C., Shashi, V., Radtke, R. A., Mirzaa, G. M., Weisner, P. A., Daboub, J. F., Hagedorn, C., Bayrak-Toydemir, P., DeMille, D., Zhao, J., Bajaj, N., Capri, Y., Keren, B., Schmidts, M., Laar, I. M. V. D., Slegtenhorst, M. A. V., Ploski, R., Bogotko, M., Bourque, D. K., Alkhunaizi, E., Chad, L., Quercia, N., Elloumi, H., Wentzensen, I. M., Kruer, M. C., Bisarad, P., Galaz-Montoya, C. I., Rusu, V., Braun, D., Angione, K., Win, J. C., Espinosa-Jovel, C., Zacher, P., Platzer, K., Berkovic, S. F., Scheffer, I. E., Chebib, M., Rubboli, G., Møller, R. S., Reid, C. A., & Ahring, P. K. (2025). Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive. Journal of Clinical Investigation. https://doi.org/10.1172/jci189830

Source records

crossref · retrieved 2026-09-26T10:02:44.501Z