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Physiological synaptic activity and recognition memory require astroglial glutamine2022 Nature Communications article Neuroscience Neuroscience and Neuropharmacology Research Open access
Giselle T. Y. Cheung, Danijela Bataveljić, Josien Visser, Naresh Kumar, Julien Moulard, Glenn M. Dallérac, +9 more
75citations -
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration2023 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Annalisa Vetro, Cristiana Pelorosso, Simona Balestrini, Alessio Masi, Sophie Hambleton, Emanuela Argilli, +82 more
43citations -
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies2020 The American Journal of Human Genetics article Medicine Epilepsy research and treatment Open access
Peter D. Galer, Shiva Ganesan, David J. Lewis-Smith, Sarah McKeown Ruggiero, Manuela Pendziwiat, Katherine L. Helbig, +12 more
47citations -
A Versatile Clustered Regularly Interspaced Palindromic Repeats Toolbox to Study Neurological CaV3.2 Channelopathies by Promoter-Mediated Transcription Control2022 Frontiers in Molecular Neuroscience article Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering Open access cited by 1 patent
Despina Tsortouktzidis, Anna R. Tröscher, Herbert Schulz, Thoralf Opitz, Susanne Schoch, Albert Johann Becker, +1 more
2citations -
Dravet Variant SCN1AA1783V Impairs Interneuron Firing Predominantly by Altered Channel Activation2021 Frontiers in Cellular Neuroscience article Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Nikolas Layer, Lukas Sonnenberg, Emilio Pardo González, Jan Benda, Ulrike B. S. Hedrich, Holger Lerche, +2 more
17citations -
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating2021 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Georgios Tachtsidis, Claudia Schob, Mahmoud Koko, Ulrike B. S. Hedrich, Holger Lerche, Johannes R. Lemke, +16 more
24citations -
TMS and EEG Pharmacodynamic Effects of a Selective Sphingosine‐1‐Phosphate Subtype 1 Receptor Agonist on Cortical Excitability in Healthy Subjects2024 Clinical Pharmacology & Therapeutics article Medicine Epilepsy research and treatment Open access
Catherine M.K.E. de Cuba, Annika A. de Goede, Erica Surya Klaassen, Marije E. Otto, Robert Jan Doll, Jessica J. Kim, +4 more
4citations -
Synaptic Organization of the Human Temporal Lobe Neocortex as Revealed by High-Resolution Transmission, Focused Ion Beam Scanning, and Electron Microscopic Tomography2020 International Journal of Molecular Sciences article Neuroscience Neuroscience and Neuropharmacology Research Open access
Astrid Rollenhagen, Bernd Walkenfort, Rachida Yakoubi, Sarah A. Klauke, Sandra F. Schmuhl-Giesen, Jacqueline Heinen‐Weiler, +6 more
27citations -
Molecular and Clinical Repercussions of GABA Transporter 1 Variants Gone Amiss: Links to Epilepsy and Developmental Spectrum Disorders2022 Frontiers in Molecular Biosciences article Medicine Epilepsy research and treatment Open access
Florian P. Fischer, Ameya Sanjay Kasture, Thomas Hummel, Sonja Sučić
40citations -
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome2021 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Kristina Lanko, Francisco J. Guzmán‐Vega, Adam Jackson, Reshmi Ramakrishnan, Kelly J. Cardona‐Londoño, Karla A. Peña‐Guerra, +90 more
35citations