Publications by authors named "Christian BoSSelmann"

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To the editors: SCN1A gain-of-function effects in Dravet syndrome: Insights into clinical phenotypes and therapeutic implications.
Peter Müller-Wöhrstein, Holger Lerche, Christian M Boßelmann

Epilepsia Open· December 2025

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Insights Into -Related Epilepsy From 586 People: Variant Penetrance, Phenotypic Spectrum, and Treatment Outcomes.
Manuela Ochoa-Urrea, Elizabeth A Butler, Tobias Bruenger, Costin Leu, Christian M Boßelmann

Neurology· November 2025

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Function Matters: Variant Mechanisms in the Era of Precision Medicine.
Christian M Boßelmann

Neuropediatrics· November 2025

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Risk Management in "Other Clinical Investigations" According to Art. 82 MDR - Lessons Learnt from the EDITh Project.
Ariadna Pérez Garriga, Stefan Wolking, Josua Kegele, Christian M Bosselmann, Beatrice Coldewey

Stud Health Technol Inform· October 2025

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Ligand distances as key predictors of pathogenicity and function in NMDA receptors.
Ludovica Montanucci, Tobias Brünger, Nisha Bhattarai, Christian M Boßelmann, Sukhan Kim

Hum Mol Genet· January 2025

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Evaluating novel in silico tools for accurate pathogenicity classification in epilepsy-associated genetic missense variants.
Ludovica Montanucci, Tobias Brünger, Christian M Boßelmann, Alina Ivaniuk, Eduardo Pérez-Palma

Epilepsia· December 2024

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Clinical signatures of genetic epilepsies precede diagnosis in electronic medical records of 32,000 individuals.
Peter D Galer, Shridhar Parthasarathy, Julie Xian, Jillian L McKee, Sarah M Ruggiero

Genet Med· November 2024

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Analysis of 1386 epileptogenic brain lesions reveals association with DYRK1A and EGFR.
Christian M Boßelmann, Costin Leu, Tobias Brünger, Lucas Hoffmann, Sara Baldassari

Nat Commun· November 2024

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Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.
Siwei Chen, Bassel W Abou-Khalil, Zaid Afawi, Quratulain Zulfiqar Ali, Elisabetta Amadori, Christian Bosselmann

medRxiv· September 2024

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Breath-Hold-Triggered BOLD fMRI in Drug-Resistant Nonlesional Focal Epilepsy-A Pilot Study.
Christian M Boßelmann, Josua Kegele, Leonie Zerweck, Uwe Klose, Silke Ethofer

Clin Neuroradiol· June 2024

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Distances from ligands as main predictive features for pathogenicity and functional effect of variants in NMDA receptors.
Ludovica Montanucci, Tobias Brünger, Nisha Bhattarai, Christian M Boßelmann, Sukhan Kim

medRxiv· May 2024

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Healthcare utilization and clinical characteristics of genetic epilepsy in electronic health records.
Christian M Boßelmann, Alina Ivaniuk, Mark St John, Sara C Taylor, Gokul Krishnaswamy

Brain Commun· March 2024

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Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia.
Hang Lyu, Christian M Boßelmann, Katrine M Johannesen, Mahmoud Koko, Juan Dario Ortigoza-Escobar

EBioMedicine· December 2023

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Natural language processing and expert follow-up establishes tachycardia association with CDKL5 deficiency disorder.
Alina Ivaniuk, Christian M Boßelmann, Xiaoming Zhang, Mark St John, Sara C Taylor

Genet Med Open· November 2023

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Technological and computational approaches to detect somatic mosaicism in epilepsy.
Christian M Boßelmann, Costin Leu, Dennis Lal

Neurobiol Dis· August 2023

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Real-world data on cannabidiol treatment of various epilepsy subtypes: A retrospective, multicenter study.
Fabienne Kühne, Lena-Luise Becker, Thomas Bast, Astrid Bertsche, Ingo Borggraefe

Epilepsia Open· June 2023

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Are AI language models such as ChatGPT ready to improve the care of individuals with epilepsy?
Christian M Boßelmann, Costin Leu, Dennis Lal

Epilepsia· May 2023

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Modeling Clinical Guidelines for an Epilepsy-CDSS: The EDiTh Project.
Ariadna Pérez Garriga, Stefan Wolking, Jonas Fortmann, Raphael W Majeed, Christian Stockem, Christian Bosselmann

Stud Health Technol Inform· May 2023

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Predicting functional effects of ion channel variants using new phenotypic machine learning methods.
Christian Malte Boßelmann, Ulrike B S Hedrich, Holger Lerche, Nico Pfeifer

PLoS Comput Biol· March 2023

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Sponge EEG is equivalent regarding signal quality, but faster than routine EEG.
Michael Günther, Leonie Schuster, Christian Boßelmann, Holger Lerche, Ulf Ziemann

Clin Neurophysiol Pract· March 2023

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Successful treatment of adult Dravet syndrome patients with cenobamate.
Konstantin L Makridis, Anna-Lena Friedo, Christoph Kellinghaus, Florian-Phillip Losch, Bettina Schmitz

Epilepsia· December 2022

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Modulating effects of FGF12 variants on Na1.2 and Na1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series.
Simone Seiffert, Manuela Pendziwiat, Tatjana Bierhals, Himanshu Goel, Niklas Schwarz

EBioMedicine· September 2022

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Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.
Maria B Christensen, Amanda M Levy, Nazanin A Mohammadi, Marcello Niceta, Rauan Kaiyrzhanov

Clin Genet· August 2022

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Predicting the functional effects of voltage-gated potassium channel missense variants with multi-task learning.
Christian Malte Boßelmann, Ulrike B S Hedrich, Peter Müller, Lukas Sonnenberg, Shridhar Parthasarathy

EBioMedicine· July 2022

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Pyridoxine or pyridoxal-5-phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort study.
Allan Bayat, Angel Aledo-Serrano, Antonio Gil-Nagel, Christian M Korff, Ashley Thomas

Dev Med Child Neurol· June 2022

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