Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders

Lydie Burglen, Evelien Van Hoeymissen, Leila Qebibo, Magalie Barth, Newell Belnap, Felix Boschann, Christel Depienne, Katrien De Clercq, Andrew GL Douglas, Mark P Fitzgerald, Nicola Foulds, Catherine Garel, Ingo Helbig, Katharina Held, Denise Horn, Annelies Janssen, Angela M Kaindl, Vinodh Narayanan, Christina Prager, Mailys Rupin-Mas, Alexandra Afenjar, Siyuan Zhao, Vincent Th Ramaekers, Sarah M Ruggiero, Simon Thomas, Stéphanie Valence, Lionel Van Maldergem, Tibor Rohacs, Diana Rodriguez, David Dyment, Thomas Voets, Joris Vriens

Open source

DOI: 10.7554/elife.81032
Published: 2023-01-17
Container: eLife
Publisher: eLife Sciences Publications, Ltd
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.7554/elife.81032,
  title = {Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders},
  author = {Lydie Burglen and Evelien Van Hoeymissen and Leila Qebibo and Magalie Barth and Newell Belnap and Felix Boschann and Christel Depienne and Katrien De Clercq and Andrew GL Douglas and Mark P Fitzgerald and Nicola Foulds and Catherine Garel and Ingo Helbig and Katharina Held and Denise Horn and Annelies Janssen and Angela M Kaindl and Vinodh Narayanan and Christina Prager and Mailys Rupin-Mas and Alexandra Afenjar and Siyuan Zhao and Vincent Th Ramaekers and Sarah M Ruggiero and Simon Thomas and Stéphanie Valence and Lionel Van Maldergem and Tibor Rohacs and Diana Rodriguez and David Dyment and Thomas Voets and Joris Vriens},
  year = {2023},
  journal = {eLife},
  doi = {10.7554/elife.81032},
  url = {https://doi.org/10.7554/elife.81032}
}

RIS

TY  - JOUR
TI  - Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders
AU  - Lydie Burglen
AU  - Evelien Van Hoeymissen
AU  - Leila Qebibo
AU  - Magalie Barth
AU  - Newell Belnap
AU  - Felix Boschann
AU  - Christel Depienne
AU  - Katrien De Clercq
AU  - Andrew GL Douglas
AU  - Mark P Fitzgerald
AU  - Nicola Foulds
AU  - Catherine Garel
AU  - Ingo Helbig
AU  - Katharina Held
AU  - Denise Horn
AU  - Annelies Janssen
AU  - Angela M Kaindl
AU  - Vinodh Narayanan
AU  - Christina Prager
AU  - Mailys Rupin-Mas
AU  - Alexandra Afenjar
AU  - Siyuan Zhao
AU  - Vincent Th Ramaekers
AU  - Sarah M Ruggiero
AU  - Simon Thomas
AU  - Stéphanie Valence
AU  - Lionel Van Maldergem
AU  - Tibor Rohacs
AU  - Diana Rodriguez
AU  - David Dyment
AU  - Thomas Voets
AU  - Joris Vriens
PY  - 2023
JO  - eLife
DO  - 10.7554/elife.81032
UR  - https://doi.org/10.7554/elife.81032
ER  -

APA

Burglen, L., Hoeymissen, E. V., Qebibo, L., Barth, M., Belnap, N., Boschann, F., Depienne, C., Clercq, K. D., Douglas, A. G., Fitzgerald, M. P., Foulds, N., Garel, C., Helbig, I., Held, K., Horn, D., Janssen, A., Kaindl, A. M., Narayanan, V., Prager, C., Rupin-Mas, M., Afenjar, A., Zhao, S., Ramaekers, V. T., Ruggiero, S. M., Thomas, S., Valence, S., Maldergem, L. V., Rohacs, T., Rodriguez, D., Dyment, D., Voets, T., & Vriens, J. (2023). Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders. eLife. https://doi.org/10.7554/elife.81032

Source records

crossref · retrieved 2026-09-27T14:27:33.572Z