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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 -
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 -
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 -
Pathophysiology of transient neurological deficit in patients with chronic subdural hematoma: A systematic review2022 Acta Neurologica Scandinavica review Medicine Neurosurgical Procedures and Complications Open access
Jurre Blaauw, Josje M. van Zundert, Heleen M. den Hertog, Niels Anthony Van Der Gaag, Korné Jellema, Rúben Dammers, +4 more
10citations -
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 -
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 -
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