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

Noonan Syndrome Like with Loose Anagen-1 due to SHOC2 Mutation—A Report of Two Cases from India

Autor: Vykuntaraju K. Gowda, Deepa B. Yalagishettar, Varunvenkat M. Srinivasan, Sahana M. Srinivas

Publikováno v: Indian Dermatology Online Journal, Vol 15, Iss 6, Pp 1025-1026 (2024)

Externí odkaz: https://doaj.org/article/81640d0dfb2e468bb52014189f9bd19c

Skutterudites as sustainable thermoelectric material- A critical review

Autor: K, Klinton Brito, D, Shobana Priyanka, M, Srinivasan, J B, Sudharsan, K, Fujiwara, P, Ramasamy

Publikováno v: In Solid State Sciences November 2024 157

Transzonular moxifloxacin and dexamethasone delivery in phacoemulsification: A novel dropless regimen

Autor: M Srinivasan Gounder, Syed W A Rizvi, Humayoun Asharaf, Adeeb A Khan, Sameer Ashraf, Afeefa Akhtar

Publikováno v: Indian Journal of Ophthalmology, Vol 72, Iss 8, Pp 1147-1149 (2024)

Purpose: To assess the safety and efficacy of transzonular moxifloxacin and dexamethasone versus standard postoperative topical drug regimen in phacoemulsification. Design: Nonrandomized prospective study. Methods: The study included 100 eyes of 100

Externí odkaz: https://doaj.org/article/1815ce79493a441e83d1ffb80fd89347

Landscape of genetic infantile epileptic spasms syndrome—A multicenter cohort of 124 children from India

Autor: Balamurugan Nagarajan, Vykuntaraju K. Gowda, Sangeetha Yoganathan, Indar Kumar Sharawat, Kavita Srivastava, Nitish Vora, Rahul Badheka, Sumita Danda, Umesh Kalane, Anupriya Kaur, Priyanka Madaan, Sanjiv Mehta, Sandeep Negi, Prateek Kumar Panda, Surekha Rajadhyaksha, Arushi Gahlot Saini, Lokesh Saini, Siddharth Shah, Varunvenkat M. Srinivasan, Renu Suthar, Maya Thomas, Sameer Vyas, Naveen Sankhyan, Jitendra Kumar Sahu

Publikováno v: Epilepsia Open, Vol 8, Iss 4, Pp 1383-1404 (2023)

Abstract Objective Literature on the genotypic spectrum of Infantile Epileptic Spasms Syndrome (IESS) in children is scarce in developing countries. This multicentre collaboration evaluated the genotypic and phenotypic landscape of genetic IESS in In

Externí odkaz: https://doaj.org/article/2042c5f568e642f6a08dd0240ef34435