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ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model2022 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Antonio Vitobello, Benoît Mazel, Vera G. Lelianova, Alice Zangrandi, Evelina Petitto, Jason Suckling, +34 more
49citations -
A New Toolbox to Label Zinc-MTF1 Responsive Neuronal Populations Unravels Cellular Congruence between MTF1 Responses and T-type Calcium Channelopathies in an Experimental Model of Epilepsy
Katharina Schmied, Aniella Bak, Julika Pitsch, Henner Koch, Susanne Schoch, Albert Johann Becker, +1 more
0citations -
Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons2021 Molecular Psychiatry article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Karen Runge, Rémi Mathieu, Stéphane Bugeon, Sahra Lafi, Corinne Beurrier, Surajit Sahu, +32 more
50citations -
Alternating hemiplegia of childhood associated mutations in Atp1a3 reveal diverse neurological alterations in mice2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Epilepsy research and treatment Open access
Markus Terrey, Georgii Krivoshein, Scott I. Adamson, Elena Arystarkhova, Laura C. Anderson, John Szwec, +13 more
2citations -
Axonopathy and altered synaptic development in early hippocampal epileptogenesis of Dravet syndrome2023 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Epilepsy research and treatment Open access
Nikolas Layer, Peter Müller, Maya Ayash, Friederike Pfeiffer, Meret Saile, Fabian Klopfer, +7 more
6citations -
Brainstem depolarization–induced lethal apnea associated with gain-of-function SCN1A L263V is prevented by sodium channel blockade2024 Proceedings of the National Academy of Sciences article Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Nico A. Jansen, Sandrine Cestèle, Silvia Sanchez Marco, Maarten Schenke, Jayesh Patel, Else A. Tolner, +3 more
7citations -
Forkhead box versus NF-κB hippocampal snRNA-seq profiles distinguish anti-Drebrin- and anti-GAD65-positive encephalitis2026 Journal of Neuroinflammation article Medicine Autoimmune Neurological Disorders and Treatments Open access
Karen M. J. van Loo, Daniel S. Galvis-Montes, Annika Breuer, Juliane L Berns, Chiara A. Hummel, Tobias R. Baumgartner, +12 more
0citations
20 results