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Correlation of polygenic risk score and clinical phenotype in patients with genetic generalized epilepsy2026 Epilepsia article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Sophie von Brauchitsch, Robin A. Karge, Bobby P.C. Koeleman, Samuel Frank Berkovic, Danielle M. Andrade, Francesca Bisulli, +21 more
0citations -
Assessment of burden and segregation profiles of CNVs in patients with epilepsy2022 Annals of Clinical and Translational Neurology article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Claudia Moreau, Frédérique Tremblay, Stefan Wolking, Alexandre Girard, Catherine Laprise, Fadi F. Hamdan, +4 more
6citations -
Assessment of burden and segregation profiles of CNVs in patients with epilepsy2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Claudia Moreau, Frédérique Tremblay, Stefan Wolking, Alexandre Girard, Catherine Laprise, Fadi F. Hamdan, +4 more
0citations -
KCNC2 variants of uncertain significance are also associated to various forms of epilepsy2023 Frontiers in Neurology article Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Simone Seiffert, Manuela Pendziwiat, Ulrike B. S. Hedrich, Ingo Helbig, Yvonne G. Weber, Niklas Schwarz
2citations -
Loss-of-function variants in the KCNQ5 gene are associated with genetic generalized epilepsies2021 medRxiv preprint Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Johanna Krüger, Julian Schubert, Josua Kegele, Audrey Labalme, Miaomiao Mao, Jacqueline Heighway, +15 more
3citations -
The role of creatine kinase in distinguishing generalized tonic–clonic seizures from psychogenic non-epileptic seizures (PNES) and syncope: a retrospective study and meta-analysis of 1300 patients2023 Neurological Research and Practice review Medicine Psychosomatic Disorders and Their Treatments Open access
Ramy Abdelnaby, Anas Elgenidy, Jan Heckelmann, Mahmoud Mostafa Bedewy, Ahmed Samy Shabib, Khaled Abdelmoneim Elmenawi, +6 more
11citations -
Drosophila melanogaster as a model for unraveling unique molecular features of epilepsy elicited by human GABA transporter 1 variants2023 Frontiers in Neuroscience article Neuroscience Neuroscience and Neuropharmacology Research Open access
Ameya Sanjay Kasture, Florian P. Fischer, Melanie Burger, Alexander C. Burgstaller, Ali El‐Kasaby, Thomas Hummel, +1 more
19citations -
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations2021 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Katrine M. Johannesen, Sumaiya Iqbal, Milena Guazzi, Nazanin A. Mohammadi, Eduardo Pérez‐Palma, Élise Schaefer, +41 more
0citations -
Structural mapping of GABRB3 variants reveals genotype–phenotype correlations2021 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Katrine M. Johannesen, Sumaiya Iqbal, Milena Guazzi, Nazanin A. Mohammadi, Eduardo Pérez‐Palma, Élise Schaefer, +40 more
23citations -
Cenobamate: real-world data from a retrospective multicenter study2024 Journal of Neurology article Medicine Epilepsy research and treatment Open access cited by 1 patent
Stephan Lauxmann, Jan Heckelmann, Florian P. Fischer, Melanie Schreiber, Elisabeth Schriewer, Guido Widman, +5 more
27citations -
Single-nucleus RNA sequencing: immature excitatory neurons and transformed glia build human BRAFV600E-negative gangliogliomas2025 Brain Communications article Biochemistry, Genetics and Molecular Biology Single-cell and spatial transcriptomics Open access
Silvia Cases‐Cunillera, Philipp Müller, Ashley J. Waardenberg, Susanne Schoch, Gilles Huberfeld, Anke Höllig, +4 more
2citations -
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies2020 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Peter D. Galer, Shiva Ganesan, David J. Lewis-Smith, Sarah McKeown Ruggiero, Manuela Pendziwiat, Katherine L. Helbig, +12 more
46citations