Khadijah Bakur on Muck Rack

Khadijah Bakur

As seen in: Nature, The American Journal of Human Genetics
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Articles

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy

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By Adam Jackson, Alexander Blakes, Bader Alhaddad, Olivia Henry, Elizabeth 'Ebbie' Wall, Ola A. Abdelhadi, Khadijah Bakur, Edward D Blair, Angela Brady, Helen K Brittain, Kate Chandler, Natasha Clarke, Irene Duba, Frances Elmslie, Jamie M. Ellingford, Lisa J. Ewans, Andrew Fennell, Simon Heller, Anna Hammarsjö, Nicole Lesko, Anna Lindstrand, Rebecca Macintosh, Sahar Mahmoud Mansour, Lara Menzies, Kay Metcalfe, Lina Nashef, Raymond T. O’Keefe, Elizabeth Palmer, Amitav Parida, Melody Redman, Alessandra Renieri, Chiara Fallerini, Caterina Rizzo, Rani Sachdev, Cas Simons, Sanjay M Sisodiya, Helen Stewart, Tommy Stödberg, Benito Banos-Pinero, Fulya Taylan, Huw Thomas Verified, Samuel Wiafe, Anna Wedell, Nicola Whiffin, Susan Walker, Rocio Rius, Ann Nordgren, Fowzan S. Alkuraya, Jenny Lord, Siddharth Banka, Angelica M. Delgado-Vega, Shakti Agrawal, Miriana Danelli, Nicholas Drinkall, Gabriella Gazdagh, Kristina Karrman, Usha Kini, Alison Milhench, Nadja Pekkola Pacheco, Katrina Prescott, Flavia Tinella, Jong Hee Chae
| Nature Verified
Abstract Neurodevelopmental disorders (NDDs) affect 2–4% of the population, are predominantly genetic and remain unsolved in ~50% of individuals. We show that rare biallelic variants in RNU2-2 are enriched and over-transmitted in individuals with unresolved NDDs. We define a recessive RNU2-2 syndrome, delineate its unique genetic architecture and show that it manifests clinically as a severe developmental and epileptic encephalopathy.
Open in Who Shared Issue with article?

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy

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By Heba Morsy, Hyeonho Kim, Gyubin Jang, Maha S. Zaki, Mariasavina Severino, Ibrahim M. Abdelrazek, Haytham Hussien, Eleanor Self, Raidah Saleem Albaradie, Khadijah Bakur, Stephanie Efthymiou, Amira Nabil, Javeria Raza Alvi, Shahryar Alavi, Reza Alibakhshi, Vehap Topcu, Hanifenur Mancilar, Eyyup Uctepe, Ahmet Yesilyurt, Hesham M Aldhalaan, Bader Alhaddad, Hasnaa M. Elbendary, Annarita Scardamaglia, David Murphy Verified, Vicente A. Yépez, Julien Gagneur, Tarek Omar, Marwa Abd Elmaksoud, Mary M Reilly, Tipu Sultan, Fowzan S. Alkuraya, Joseph G. Gleeson, Henry Houlden, Jaewon Ko, Reza Maroofian, Zahra Firoozfar, Mahmoud M. Noureldeen, Fateme Molavi, Jana Vandrovocova, Ebtessam Abdalla
| The American Journal of Human Genetics Verified
Keywords MDGA2 neurodevelopmental disorder epileptic encephalopathy excitatory synapse excitatory-inhibitory balance synaptic suppression neuroligin Main text Developmental and epileptic encephalopathies (DEEs) are a group of severe neurodevelopmental disorders characterized by early-onset, intractable seizures and intellectual disability or developmental regression.
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