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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.

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

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GeneReviews Article Recognizing DLG4-Synaptopathy

Dr. Zeynep Tümer, Dr. Carlos Prada, Dr. Thomas Dye, Dr. Alex MacKenzie, Alexandre White-Brown, Amanda Levy

June 2023

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Neurodevelomental Disorders Associated with PSD-95 and Its Interaction Partners

Amanda M. Levy, Paulino Gomez-Puertas, and Zeynep Tümer

June 2022

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Diversity of synaptic protein complexes as a function of the abundance of their constituent proteins: A modeling approach

Miski M, Keömley-Horváth BM, Rákóczi Megyeriné D, Csikász-Nagy A, Gáspári Z (2022) PLOS Computational Biology 18(1): e1009758.

January 2022

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DLG4-related Synaptopathy: a new rare brain disorder

Agustí Rodríguez-Palmero et al.

February 2021

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From Hyposociability to Hypersociability—The Effects of PSD-95 Deficiency on the Dysfunctional Development of Social Behavior

Wen-Jun Gao and Nancy R. Mack

January 2021

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Multiplex gene and phenotype network to characterize shared genetic pathways of epilepsy and autism

Jacqueline Peng, Yunyun Zhou & Kai Wang

January 2021

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DLG4 and Vamp2 involvement in comorbidity between Epilepsy and ADHD

Xiao-Jun Xi, Ji-Hong Tang, Bing-Bing Zhang, Xiao Xiao, Xiao-Yue Hu, Yu Wan, Cheng Zhou, Hong Lin

June 2020

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Truncating Variants of the DLG4 Gene

S Moutton, A-L Bruel, M Assoum, M Chevarin, E Sarrazin, C Goizet, A-M Guerrot, A Charollais, P Charles, D Heron, A Faudet, N Houcinat, A Vitobello, F Tran-Mau-Them, C Philippe, Y Duffourd, C Thauvin-Robinet, L Faivre

June 2018

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Integrative genomics study of microglial transcriptome reveals effect of DLG4 (PSD95) on white matter in preterm infants

Michelle L Krishnan, Juliette Van Steenwinckel, Anne-Laure Schang, Jun Yan, Johanna Arnadottir, Tifenn Le Charpentier, Zsolt Csaba, Pascal Dournaud, Sara Cipriani, Constance Auvynet, Luigi Titomanlio, Julien Pansiot, Gareth Ball, James P Boardman, Andrew J Walley, Alka Saxena, Ghazala Mirza, Bobbi Fleiss, A David Edwards, Enrico Petretto, Pierre Gressens

February 2017

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Meta-analysis of 2,104 Trios Provides Support for 10 Novel Candidtate Genes for Intellectual Disability

Stefan H. Lelieveld, Margot R.F. Reijnders, Rolph Pfundt, Helger G. Yntema, Erik-Jan Kamsteeg, Petra de Vries, Bert B.A. de Vries, Marjolein H. Willemsen, Tjitske Kleefstra, Katharina Löhner, Maaike Vreeburg, Servi Stevens, Ineke van der Burgt, Ernie M.H.F. Bongers, Alexander P.A. Stegmann, Patrick Rump, Tuula Rinne, Marcel R. Nelen, Joris A. Veltman, Lisenka E.L.M. Vissers, Han G. Brunner, Christian Gilissen

May 2016

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