Skip to main content
Balasubramaniem Ashokkumar on Muck Rack

Balasubramaniem Ashokkumar

As seen in: Nature
Is this you? As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work. Claim your profile

Get in touch with Balasubramaniem

Contact Balasubramaniem, search articles and posts on X, monitor coverage, and track replies from one place.

Learn more about Muck Rack

Actions

Share this page

Is this you?

As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work.
Claim your profile

Articles

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

|
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.
Open in Who Shared Issue with article?
See all 1 articles