Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a SYNGAP1 likely pathogenic variant by Peter J. B. Sabatini, Resham Ejaz, Dimitri J. Stavropoulos, Roberto Mendoza-Londono, Ann M. Joseph-George

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Behavioural and neurodevelopmental characteristics of SYNGAP1 by Nadja Bednarczuk, Harriet Housby, Irene O. Lee, IMAGINE Consortium, David Skuse, Jeanne Wolstencroft

Subjects: “…SYNGAP1…”
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Novel variants of SYNGAP1 associated epileptic encephalopathy: two cases report and literature review by Xingying Zeng, Yong Chen, Xiongying Yu, Yuanyuan Che, Hui Chen, Zhaoshi Yi, Jie Qin, Jianmin Zhong

Subjects: “…SYNGAP1…”
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Endogenous Syngap1 alpha splice forms promote cognitive function and seizure protection by Murat Kilinc, Vineet Arora, Thomas K Creson, Camilo Rojas, Aliza A Le, Julie Lauterborn, Brent Wilkinson, Nicolas Hartel, Nicholas Graham, Adrian Reich, Gemma Gou, Yoichi Araki, Àlex Bayés, Marcelo Coba, Gary Lynch, Courtney A Miller, Gavin Rumbaugh

Subjects: “…Syngap1…”
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A clinical case of SYNGAP1-associated encephalopathy in a girl with epilepsy, intellectual disability, and autism by N. N. Savelieva, A. V. Yakunina, I. E. Poverennova

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Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression by Andres Jimenez-Gomez, Sizhe Niu, Fabiola Andujar-Perez, Elizabeth A. McQuade, Alfred Balasa, David Huss, Rohini Coorg, Michael Quach, Sherry Vinson, Sarah Risen, J. Lloyd Holder

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Case report: Off-label use of low-dose perampanel in a 25-month-old girl with a pathogenic SYNGAP1 variant by Siddharth Gupta, Yun Hwang, Natasha Ludwig, Natasha Ludwig, Julia Henry, Shilpa D. Kadam, Shilpa D. Kadam

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Clinical and behavioural features of SYNGAP1-related intellectual disability: a parent and caregiver description by Damien Wright, Aisling Kenny, Sarah Eley, Andrew G. McKechanie, Andrew C. Stanfield

Subjects: “…SYNGAP1-related ID…”
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Context-dependent hyperactivity in syngap1a and syngap1b zebrafish models of SYNGAP1-related disorder by Sureni H. Sumathipala, Sureni H. Sumathipala, Suha Khan, Robert A. Kozol, Robert A. Kozol, Yoichi Araki, Sheyum Syed, Richard L. Huganir, Julia E. Dallman

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Phenotypes in Children With SYNGAP1 Encephalopathy in China by Huiting Zhang, Liu Yang, Jing Duan, Qi Zeng, Li Chen, Yu Fang, Junjie Hu, Dezhi Cao, Jianxiang Liao

Subjects: “…SYNGAP1 gene…”
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Novel De Novo Intronic Variant of SYNGAP1 Associated With the Neurodevelopmental Disorders by Wuming Xie, Baoqiong Liao, Mei Shuai, Rutian Liu, Min Hong, Shuwen He

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Identification and functional characterization of de novo variant in the SYNGAP1 gene causing intellectual disability by Boxuan Li, Yu Wang, Dong Hou, Dong Hou, Zhen Song, Lihua Zhang, Na Li, Ruifang Yang, Ping Sun

Subjects: “…SYNGAP1…”
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Comprehensive behavioral analysis of heterozygous Syngap1 knockout mice by Ryuichi Nakajima, Keizo Takao, Satoko Hattori, Hirotaka Shoji, Noboru H. Komiyama, Seth G. N. Grant, Tsuyoshi Miyakawa

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The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators by Monica Weldon, Murat Kilinc, J. Lloyd Holder, Gavin Rumbaugh

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Differential Regulation of Syngap1 Translation by FMRP Modulates eEF2 Mediated Response on NMDAR Activity by Abhik Paul, Bharti Nawalpuri, Bharti Nawalpuri, Devanshi Shah, Shruthi Sateesh, Ravi S. Muddashetty, James P. Clement

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Social behavioral impairments in SYNGAP1-related intellectual disability by Hajer Naveed, Maria McCormack, J. Lloyd Holder

Subjects: “…SYNGAP1 gene…”
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Sleep Abnormalities in the Synaptopathies—<i>SYNGAP1</i>-Related Intellectual Disability and Phelan–McDermid Syndrome by Constance Smith-Hicks, Damien Wright, Aisling Kenny, Robert C. Stowe, Maria McCormack, Andrew C. Stanfield, J. Lloyd Holder

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SYNGAP1: mind the GAP by Nallathambi eJeyabalan, James P Clement

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Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy by Juliana Ribeiro-Constante, Alba Tristán-Noguero, Alba Tristán-Noguero, Fernando Francisco Martínez Calvo, Salvador Ibañez-Mico, José Luis Peña Segura, José Miguel Ramos-Fernández, María del Carmen Moyano Chicano, Rafael Camino León, Víctor Soto Insuga, Elena González Alguacil, Carlos Valera Dávila, Alberto Fernández-Jaén, Laura Plans, Ana Camacho, Nuria Visa-Reñé, María del Pilar Martin-Tamayo Blázquez, Fernando Paredes-Carmona, Itxaso Marti-Carrera, Aránzazu Hernández-Fabián, Meritxell Tomas Davi, Merce Casadesus Sanchez, Laura Cuesta Herraiz, Patricia Fuentes Pita, Teresa Bermejo Gonzalez, Mar O'Callaghan, Federico Felipe Iglesias Santa Polonia, María Rosario Cazorla, María Teresa Ferrando Lucas, Antonio González-Meneses, Júlia Sala-Coromina, Alfons Macaya, Amaia Lasa-Aranzasti, Anna Ma Cueto-González, Francisca Valera Párraga, Jaume Campistol Plana, Mercedes Serrano, Xenia Alonso, Diego Del Castillo-Berges, Marc Schwartz-Palleja, Marc Schwartz-Palleja, Marc Schwartz-Palleja, Sofía Illescas, Alia Ramírez Camacho, Oscar Sans Capdevila, Angeles García-Cazorla, Àlex Bayés, Itziar Alonso-Colmenero

Subjects: “…SYNGAP1…”
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Understanding intellectual disability and autism spectrum disorders from common mouse models: synapses to behaviour by Vijaya Verma, Abhik Paul, Anjali Amrapali Vishwanath, Bhupesh Vaidya, James P. Clement

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