Shimriet Zeidler on Muck Rack

Shimriet Zeidler

As seen in: Nature, Wiley Online Library
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Articles

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function - Nature Genetics

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By Reza Asadollahi, Boris Bouazza-Arostegui, Siqi Sun, Tillmann Utesch, Amélie Piton, Katrin Õunap, Monica H. Wojcik, Christian R Marshall, Naomichi Matsumoto, Noriko Miyake, Chong Ae Kim, Heather C Mefford, John Christodoulou, Joy Lee, Oliver Heath, Zornitza Stark, Nicole J Lake, Shimriet Zeidler, Konrad Platzer, Rami Abou Jamra, Robert Śmigiel, Katherine L. Helbig, Ingo Helbig, Mark Fitzgerald, Carlos Prada, Sylvia Redon, Stephanie Efthymiou, Reza Maroofian, Henry Houlden, Philippe M Campeau, Anna Szuto, Ronald Cohn, Aboulfazl Rad, Gabriela Oprea, Emanuele Agolini, Alessandra Terracciano, Caleb P. Bupp, Malou Heijligers, Fowzan S. Alkuraya, Antonio Edvan Camelo-Filho, Lydie Burglen, Caroline Nava, Sven Thoms, Aaron D. Gitler, Olaf Jahn, Miso Mitkovski, Heinrich Sticht, Han Sun, Holger Taschenberger, Nils Brose, Anita Rauch, Mareike Lohse, Balasubramaniem Ashokkumar, Perumal Varalakshmi, John Neidhardt, Amy Margolin
| Nature Verified
Abstract The UNC13A gene encodes a presynaptic protein that is crucial for setting the strength and dynamics of information transfer between neurons. Here we describe a neurodevelopmental syndrome caused by germline coding or splice-site variants in UNC13A. The syndrome presents with variable degrees of developmental delay and intellectual disability, seizures of different types, tremor and dyskinetic movements and, in some cases, death in early childhood.
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Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome

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By Floor Jansen, Charlotte W. Ockeloen, Nathan Buijsse, Shimriet Zeidler
| Wiley Online Library Verified
ORIGINAL ARTICLE This article has been accepted for publication and undergone full peer review but has not been through the copyediting, typesetting, pagination and proofreading process, which may lead to differences between this version and the Version of Record. Please cite this article as doi:10.1002/epi4.12799. Abstract Objective To describe the epilepsy phenotype in a large international cohort of patients with KBG syndrome and to study a possible genotype-phenotype correlation.
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