Mutations inSYNGAP1Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency-Reference-Cited by-同舟云学术

Mutations inSYNGAP1Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

Published:2012-12-12 Issue:2 Volume:34 Page:385-394
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Berryer Martin H.¹,Hamdan Fadi F.¹,Klitten Laura L.,Møller Rikke S.,Carmant Lionel¹,Schwartzentruber Jeremy²,Patry Lysanne¹,Dobrzeniecka Sylvia³,Rochefort Daniel³,Neugnot-Cerioli Mathilde¹,Lacaille Jean-Claude⁴,Niu Zhiyv⁵,Eng Christine M.⁵,Yang Yaping⁵,Palardy Sylvain⁶,Belhumeur Céline⁷,Rouleau Guy A.³,Tommerup Niels⁸,Immken LaDonna⁹,Beauchamp Miriam H.¹,Patel Gayle Simpson⁹,Majewski Jacek,Tarnopolsky Mark A.,Scheffzek Klaus¹⁰,Hjalgrim Helle,Michaud Jacques L.¹,Di Cristo Graziella¹

Affiliation:

1. Centre of Excellence in Neurosciences of Université de Montréal and Sainte-Justine Hospital Research Center; Montréal; Québec; Canada

2. McGill University and Genome Quebec Innovation Center; Montréal; Québec; Canada

3. Center of Excellence in Neuroscience of Université de Montréal; Centre de Recherche du Centre Hospitalier de l'Université de Montréal, and Department of Medicine, Université de Montréal; Montréal; Québec; Canada

4. Groupe de Recherche sur le Système Nerveux Central; Department of Physiology, Université de Montréal; Montréal; Québec; Canada

5. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston

6. Department of Psychiatry, Sainte-Justine Hospital; Montréal; Québec; Canada

7. Department of Pediatrics; Sainte-Justine Hospital; Montréal; Québec; Canada

8. Wilhelm Johannsen Centre for Functional Genome Research; University of Copenhagen; Copenhagen; Denmark

9. Specially for Children; Austin; Texas

10. Division of Biological Chemistry, Biocenter; Innsbruck Medical University; Innsbruck; Austria

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference30 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010

2. Generation of a phenotypic array of hypothalamic neuronal cell models to study complex neuroendocrine disorders;Belsham;Endocrinology,2004

3. SynGAP regulates steady-state and activity-dependent phosphorylation of cofilin;Carlisle;J Neurosci,2008

4. Experience and activity-dependent maturation of perisomatic GABAergic innervation in primary visual cortex during a postnatal critical period;Chattopadhyaya;J Neurosci,2004

5. GAD67-mediated GABA synthesis and signaling regulate inhibitory synaptic innervation in the visual cortex;Chattopadhyaya;Neuron,2007

Cited by 187 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Epigenetic Modulation to perturb theSYNGAP1Intellectual Disability (ID) that ameliorates synaptic and behavioural deficits;2024-01-03

2. Severe behavior problems in SYNGAP1-related disorder: A summary of 11 consecutive patients in a tertiary care specialty clinic;Epilepsy & Behavior;2024-01

3. Adult Phenotype of SYNGAP1 -DEE;Neurology Genetics;2023-12

4. Social behavioral impairments in SYNGAP1-related intellectual disability;Frontiers in Pediatrics;2023-11-29

5. Non-synaptic function of the autism spectrum disorder-associated gene SYNGAP1 in cortical neurogenesis;Nature Neuroscience;2023-11-09