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Modulating effects of FGF12 variants on Na V 1.2 and Na V 1.6 associated with Developmental and Epileptic Encephalopathy and Autism Spectrum Disorder2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Simone Seiffert, Manuela Pendziwiat, Tatjana Bierhals, Himanshu Goel, Niklas Schwarz, Amelie T. van der Ven, +5 more
2citations -
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Annalisa Vetro, Simona Balestrini, Cristiana Pelorosso, Alessio Masi, Sophie Hambleton, Emanuela Argilli, +37 more
6citations -
Physiological synaptic activity and recognition memory are fueled by astroglial glutamine2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Neuroscience Neuroscience and Neuropharmacology Research Open access
Giselle T. Y. Cheung, Danijela Bataveljić, Naresh Kumar, Julien Moulard, Glenn M. Dallérac, Josien Visser, +7 more
0citations -
A versatile CRISPR toolbox to study neurological Ca V 3.2 channelopathies by promoter-mediated transcription control2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering Open access
Despina Tsortouktzidis, Anna R. Tröscher, Herbert Schulz, Susanne Schoch, Albert Johann Becker, Karen M. J. van Loo
1citations -
Dravet variant SCN1A A1783V impairs interneuron firing predominantly by altered channel activation2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Nikolas Layer, Lukas Sonnenberg, Emilio Pardo González, Jan Benda, Holger Lerche, Henner Koch, +1 more
0citations -
Lipid Disbalance Affects Neuronal Dendrite Growth and Maintenance in a Human Ceramide Synthase Disease Model2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Sphingolipid Metabolism and Signaling
Anna B. Ziegler, Cedrik Wesselmann, Konstantin Beckschaefer, Anna‐Lena Wulf, Neena Dhiman, Peter Soba, +3 more
2citations -
Delineating the molecular and phenotypic spectrum of the SETD1B -related syndrome2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Marjolein J.A. Weerts, Kristina Lanko, Francisco J. Guzmán‐Vega, Adam Jackson, Reshmi Ramakrishnan, Kelly J. Cardona‐Londoño, +91 more
0citations
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