KV7.2 channel dysfunction delays neuronal maturation and undermines early network development in a hiPSC model of KCNQ2-DEE

Source
Neurobiology of disease - ISSN 0969-9961-216 (2025) p. 1-15
Author(s)
    Filip Rosa, Stephan Theiss, Susanne Krepp, Heidi Loeffler, Dulini C. Mendis, Stefanie Klingenstein, Stefan Liebau, Sarah Weckhuysen, Michael Alber, Steven Petrou, Holger Lerche, Snezana Maljevic, Thomas V. Wuttke

GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy

Source
Molecular psychiatry - ISSN 1359-4184- (2025) p.
Author(s)
    Johannes R. Lemke, Andrea Eoli, Ilona Krey, Bernt Popp, Vincent Strehlow, Dirk A. Wittekind, Anna-Leena Vuorinen, Hesham M. Aldhalaan, Sarah Baer, Anne de Saint Martin, Trine B. Hammer, Isabella Herman, Frauke Hornemann, Trine Ingebrigtsen, Damien Lederer, Gaetan Lesca, Dana Marafie, Mikael Mathot, Jill A. Rosenfeld, Rikke S. Moller, Helenius J. Schelhaas, Chelsey Stillman, Alessandro Orsini, Anup D. Patel, Juliette Piard, Pierangelo Veggiotti, Danique R.M. Vlaskamp, Sarah Weckhuysen, Stephen F. Traynelis, Tim A. Benke, Henrike O. Heyne, Steffen Syrbe

Altered cardiac excitability and arrhythmia in models of SCN1B-linked developmental and epileptic encephalopathy

Source
JCI insight - ISSN 2379-3708-10:17 (2025) p. 1-18
Author(s)
    Roberto Ramos-Mondragon, Shuyun Wang, Nnamdi Edokobi, Qinghua Liu, Xiaotan Qiao, Maya Shih, Louis T. Dang, Yao-Chang Tsan, Katalin Sterbova, Adam S. Helms, Sarah Weckhuysen, Luis F. Lopez-Santiago, Jack M. Parent, Lori L. Isom

SUDEP risk is influenced by longevity genomics : a polygenic risk score study

Source
EBioMedicine - ISSN 2352-3964-118 (2025) p. 1-14
Author(s)
    Helena Martins, James D. Mills, Susanna Pagni, Medine I. Gulcebi, Angeliki Vakrinou, Patrick B. Moloney, Lisa M. Clayton, Ravishankara Bellampalli, Hannah Stamberger, Sarah Weckhuysen, Pasquale Striano, Federico Zara, Richard D. Bagnall, Rebekah V. Harris, Kate M. Lawrence, Lynette G. Sadleir, Douglas E. Crompton, Daniel Friedman, Juliana Laze, Ling Li, Samuel F. Berkovic, Christopher Semsarian, Ingrid E. Scheffer, Orrin Devinsky, Karoline Kuchenbaecker, Simona Balestrini, Sanjay M. Sisodiya