Publications by authors named "Simone Seiffert"

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Heterozygous knockout of Synaptotagmin13 phenocopies ALS features and TP53 activation in human motor neurons.
Johannes Lehmann, Amr Aly, Christina Steffke, Luca Fabbio, Valentin Mayer, Simone Seiffert

Cell Death Dis· August 2024

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ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.
Maria W A Teunissen, Elly Lewerissa, Eline J H van Hugte, Shan Wang, Charlotte W Ockeloen, Simone Seiffert

Hum Mol Genet· July 2023

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variants of uncertain significance are also associated to various forms of epilepsy.
Simone Seiffert, Manuela Pendziwiat, Ulrike B S Hedrich, Ingo Helbig, Yvonne Weber

Front Neurol· June 2023

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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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Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With Pathogenic Variants.
Niklas Schwarz, Simone Seiffert, Manuela Pendziwiat, Annika Verena Rademacher, Tobias Brünger

Neurology· May 2022

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Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
Zheng Yie Yap, Stephanie Efthymiou, Simone Seiffert, Karen Vargas Parra, Sukyeong Lee

Am J Hum Genet· December 2021

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Whole-Exome Sequencing in NF1-Related West Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy.
Annika Rademacher, Niklas Schwarz, Simone Seiffert, Manuela Pendziwiat, Axel Rohr

Neuropediatrics· October 2020

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Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
Peter D Galer, Shiva Ganesan, David Lewis-Smith, Sarah E McKeown, Manuela Pendziwiat, Simone Seiffert

Am J Hum Genet· October 2020

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A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.
Ingo Helbig, Tania Lopez-Hernandez, Oded Shor, Peter Galer, Shiva Ganesan, Simone Seiffert

Am J Hum Genet· June 2019

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Co-occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1.
Hildegard Kehrer-Sawatzki, Uwe Kordes, Simone Seiffert, Anna Summerer, Christian Hagel

Mol Genet Genomic Med· May 2018

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