Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsy

Roberta Castelli, Carla Marini, Alessandro Porro, Anna Castellini, Greta Fontana, Andrea Saponaro, Gianpiero L. Cavalleri, Susanna Rizzi, Carlo Fusco, Amitav Parida, Richard Caswell, Charlotte Sherlaw-Sturrock, Dario Pruna, Christopher A. Reid, Lauren E. Bleakley, Katherine B. Howell, Ingrid E. Scheffer, Vishnu Anand Cuddapah, Shimriet Zeidler, Elena Pavlidis, Deb K. Pal, Krzysztof Szczałuba, Ghayda Mirzaa, Nathalie Couque, Yline Capri, Laurence Faivre, Frederic Tran Mau-Them, Fabio Sirchia, Christian M. Korff, Dario DiFrancesco, Gerhard Thiel, Christel Depienne, Bina Santoro, Anna Moroni

Open source

DOI: 10.1073/pnas.2610712123
Published: 2026-11-04
Container: Proceedings of the National Academy of Sciences
Publisher: National Academy of Sciences
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1073/pnas.2610712123,
  title = {Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsy},
  author = {Roberta Castelli and Carla Marini and Alessandro Porro and Anna Castellini and Greta Fontana and Andrea Saponaro and Gianpiero L. Cavalleri and Susanna Rizzi and Carlo Fusco and Amitav Parida and Richard Caswell and Charlotte Sherlaw-Sturrock and Dario Pruna and Christopher A. Reid and Lauren E. Bleakley and Katherine B. Howell and Ingrid E. Scheffer and Vishnu Anand Cuddapah and Shimriet Zeidler and Elena Pavlidis and Deb K. Pal and Krzysztof Szczałuba and Ghayda Mirzaa and Nathalie Couque and Yline Capri and Laurence Faivre and Frederic Tran Mau-Them and Fabio Sirchia and Christian M. Korff and Dario DiFrancesco and Gerhard Thiel and Christel Depienne and Bina Santoro and Anna Moroni},
  year = {2026},
  journal = {Proceedings of the National Academy of Sciences},
  doi = {10.1073/pnas.2610712123},
  url = {https://doi.org/10.1073/pnas.2610712123}
}

RIS

TY  - JOUR
TI  - Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsy
AU  - Roberta Castelli
AU  - Carla Marini
AU  - Alessandro Porro
AU  - Anna Castellini
AU  - Greta Fontana
AU  - Andrea Saponaro
AU  - Gianpiero L. Cavalleri
AU  - Susanna Rizzi
AU  - Carlo Fusco
AU  - Amitav Parida
AU  - Richard Caswell
AU  - Charlotte Sherlaw-Sturrock
AU  - Dario Pruna
AU  - Christopher A. Reid
AU  - Lauren E. Bleakley
AU  - Katherine B. Howell
AU  - Ingrid E. Scheffer
AU  - Vishnu Anand Cuddapah
AU  - Shimriet Zeidler
AU  - Elena Pavlidis
AU  - Deb K. Pal
AU  - Krzysztof Szczałuba
AU  - Ghayda Mirzaa
AU  - Nathalie Couque
AU  - Yline Capri
AU  - Laurence Faivre
AU  - Frederic Tran Mau-Them
AU  - Fabio Sirchia
AU  - Christian M. Korff
AU  - Dario DiFrancesco
AU  - Gerhard Thiel
AU  - Christel Depienne
AU  - Bina Santoro
AU  - Anna Moroni
PY  - 2026
JO  - Proceedings of the National Academy of Sciences
DO  - 10.1073/pnas.2610712123
UR  - https://doi.org/10.1073/pnas.2610712123
ER  -

APA

Castelli, R., Marini, C., Porro, A., Castellini, A., Fontana, G., Saponaro, A., Cavalleri, G. L., Rizzi, S., Fusco, C., Parida, A., Caswell, R., Sherlaw-Sturrock, C., Pruna, D., Reid, C. A., Bleakley, L. E., Howell, K. B., Scheffer, I. E., Cuddapah, V. A., Zeidler, S., Pavlidis, E., Pal, D. K., Szczałuba, K., Mirzaa, G., Couque, N., Capri, Y., Faivre, L., Mau-Them, F. T., Sirchia, F., Korff, C. M., DiFrancesco, D., Thiel, G., Depienne, C., Santoro, B., & Moroni, A. (2026). Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsy. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.2610712123

Source records

crossref · retrieved 2026-11-06T04:39:05.598Z