Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Autor: Emily Banks, Vincent Francis, Sheng-Jia Lin, Fares Kharfallah, Vladimir Fonov, Maxime Lévesque, Chanshuai Han, Gopinath Kulasekaran, Marius Tuznik, Armin Bayati, Reem Al-Khater, Fowzan S. Alkuraya, Loukas Argyriou, Meisam Babaei, Melanie Bahlo, Behnoosh Bakhshoodeh, Eileen Barr, Lauren Bartik, Mahmoud Bassiony, Miriam Bertrand, Dominique Braun, Rebecca Buchert, Mauro Budetta, Maxime Cadieux-Dion, Daniel G. Calame, Heidi Cope, Donna Cushing, Stephanie Efthymiou, Marwa Abd Elmaksoud, Huda G. El Said, Tawfiq Froukh, Harinder K. Gill, Joseph G. Gleeson, Laura Gogoll, Elaine S.-Y. Goh, Vykuntaraju K. Gowda, Tobias B. Haack, Mais O. Hashem, Stefan Hauser, Trevor L. Hoffman, Jacob S. Hogue, Akimoto Hosokawa, Henry Houlden, Kevin Huang, Stephanie Huynh, Ehsan G. Karimiani, Silke Kaulfuß, G. Christoph Korenke, Amy Kritzer, Hane Lee, James R. Lupski, Elysa J. Marco, Kirsty McWalter, Arakel Minassian, Berge A. Minassian, David Murphy, Juanita Neira-Fresneda, Hope Northrup, Denis M. Nyaga, Barbara Oehl-Jaschkowitz, Matthew Osmond, Richard Person, Davut Pehlivan, Cassidy Petree, Lynette G. Sadleir, Carol Saunders, Ludger Schoels, Vandana Shashi, Rebecca C. Spillmann, Varunvenkat M. Srinivasan, Paria N. Torbati, Tulay Tos, Undiagnosed Diseases Network, Maha S. Zaki, Dihong Zhou, Christiane Zweier, Jean-François Trempe, Thomas M. Durcan, Ziv Gan-Or, Massimo Avoli, Cesar Alves, Gaurav K. Varshney, Reza Maroofian, David A. Rudko, Peter S. McPherson

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-22 (2024)

Abstract Developmental and epileptic encephalopathies (DEEs) feature altered brain development, developmental delay and seizures, with seizures exacerbating developmental delay. Here we identify a cohort with biallelic variants in DENND5A, encoding a

Externí odkaz: https://doaj.org/article/67b9cc39749f4c32a8e5662c1d902770

Evidence of Two Novel LAMA2 Variants in a Patient With Muscular Dystrophy: Facing the Challenges of a Certain Diagnosis

Autor: Stefanie Meyer, Silke Kaulfuß, Sabrina Zechel, Karsten Kummer, Ali Seif Amir Hosseini, Marielle Sophie Ernst, Jens Schmidt, Silke Pauli, Jana Zschüntzsch

Publikováno v: Frontiers in Neurology, Vol 13 (2022)

BackgroundBenefits and challenges resulting from advances in genetic diagnostics are two sides of the same coin. Facilitation of a correct and timely diagnosis is paralleled by challenges in interpretation of variants of unknown significance (VUS). F

Externí odkaz: https://doaj.org/article/d364b67d3d9e4ada90453d0c8f88eebb

PIK3CA mutations are specifically localized to lymphatic endothelial cells of lymphatic malformations.

Autor: Hannah Blesinger, Silke Kaulfuß, Thiha Aung, Sonja Schwoch, Lukas Prantl, Jochen Rößler, Jörg Wilting, Jürgen Becker

Publikováno v: PLoS ONE, Vol 13, Iss 7, p e0200343 (2018)

Lymphatic malformations (LM) are characterized by the overgrowth of lymphatic vessels during pre- and postnatal development. Macrocystic, microcystic and combined forms of LM are known. The cysts are lined by lymphatic endothelial cells (LECs). Resec

Externí odkaz: https://doaj.org/article/3d44a4dfb4954383b2b520067f8b17be

Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state

Autor: Yun Li, Ruth Sheffer, Peter Nürnberg, Muhannad Daana, Silke Kaulfuss, Hagar Mor-Shakad, Bernd Wollnik, Janine Altmüller, Knut Brockmann, Peter Burfeind, Emrah Kaygusuz, Liza Douiev, Gökhan Yigit

Publikováno v: Journal of Medical Genetics. 59:549-553

BackgroundDevelopmental and epileptic encephalopathies (DEEs) represent a group of severe neurological disorders characterised by an onset of refractory seizures during infancy or early childhood accompanied by psychomotor developmental delay or regr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::071e868fe3d7984d7b7e5275445c4f05
https://doi.org/10.1136/jmedgenet-2021-107769

Systematic multigene panel studies in hereditary hearing loss diagnose complex inheritance patterns involving multiple genes

Autor: Virginia Dyett, Christoph Braunwarth, Hendrik Rosewich, Alexandr Kuranov, Silke Kaulfuß, Loukas Argyriou, Bernd Wollnik, Nicola Strenzke

Publikováno v: Abstract- und Posterband - 93. Jahresversammlung der Deutschen Gesellschaft für HNO-Heilkunde, Kopf- und Hals-Chirurgie e.V., Bonn Interface - Fokus Mensch im Zeitalter der technisierten Medizin.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a2c723b9a54ab6a7d88c5f628848abb5
https://doi.org/10.1055/s-0042-1746914