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DLG4 Research Articles
Although there is still much to learn about DLG4-related Synaptopathy, in the last few years various publications have been produced detailing the characteristics of the disease, common traits, association with other diseases, and overall functions of the DLG4 gene and PSD-95. We’ve collected links to known articles below for easy access to the DLG4 SHINE community. Any researchers with new publications are welcome to contact us about getting their article included on this page.
Generation of a human induced pluripotent stem cell line (hiPSC) from a patient with DLG4-related synaptopathy (AOUMEYi004-A) and a novel heterozygous de novo nonsense DLG4 variant c.2155A > T p.(Arg719*)
Federica Feo, Silvia Falliano, Anna Caciotti, Marina Rinaldi, Laura Giunti, Martino Calamai, Marilena Pantaleo, Angela Peron, Luciana Tramacere,
Renzo Guerrini, Amelia Morrone, Rodolfo Tonin
2026
Developmental Epileptic Encephalopathy in DLG4-Related Synaptopathy
Levy Amanda M, Gardella Elena, Aledo Serrano Angel, Dainelli Alice, Denomm Pichon Anne Sophie, GilNagel Antonio, Greiner Hansel M, Lagae Lieven, Lesca Gaetan, Mei Davide, Mller Rikke Steensbjerre, Platzer Konrad, Rheims Sylvain, Trinka Eugen, Tumer Zeynep, Rubboli Guido
December 2023
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India
Shruti Pande, Purvi Majethia, Karthik Nair, Lakshmi Priya Rao, Selinda Mascarenhas, Namanpreet Kaur, Michelle C. do Rosario, Kausthubham Neethukrishna, Ankur Chaurasia, Bhagesh Hunakunti, Nalesh Jadhav, Sruthy Xavier, Jeevan Kumar, Vivekananda Bhat, Gandham SriLakshmi Bhavani, Dhanya Lakshmi Narayanan, B. L. Yatheesha, Siddaramappa J. Patil, Sheela Nampoothiri, Nutan Kamath, Shrikiran Aroor, Ramesh Bhat Y, Leslie E. Lewis, Suvasini Sharma, …Anju Shukla
December 2023