Concepedia

Synaptic Gene Disorders

Synaptic Gene Disorders is a class of neurodevelopmental disorders characterized by mutations in genes encoding synaptic proteins, distinguished by their specific disruption of synaptic structure, function, or plasticity underlying conditions such as epilepsy and intellectual disability.

10

Publications

1.3K

Citations

232

Authors

146

Institutions

Publications per year

2017–2026

4

Parents

Publications

10

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia

Amélie Piton, J Gauthier, Fadi F. Hamdan et al. · Molecular Psychiatry · 2010 · 320 citations

, , +16

Mutations in<i>SYNGAP1</i>Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

Martin H. Berryer, Fadi F. Hamdan, Laura L. Klitten et al. · Human Mutation · 2012 · 280 citations

, , +17

Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions

Hsien-Yang Lee, Yong Huang, Nadine Bruneau et al. · Cell Reports · 2012 · 267 citations · Full text

, , +16

Heterozygous Ambra1 Deficiency in Mice: A Genetic Trait with Autism-Like Behavior Restricted to the Female Gender

Ekrem Dere, Liane Dahm, Derek S. Lu et al. · Frontiers in Behavioral Neuroscience · 2014 · 113 citations · Full text

, , +17

Excessive expression of synaptojanin in brains with Down syndrome

Yasuhiro Arai, Takeshi Ijuin, Tadanomi Takenawa et al. · Brain and Development · 2002 · 84 citations

, , +13

1–5 of 10

Authors

232

  1. FF
    Fadi F. Hamdan

    Centre Hospitalier Universitaire Sainte-Justine, Canada

    2 publications · 600 citations

    2

    h-index

  2. GA
    Guy A. Rouleau

    McGill University, Canada

    2 publications · 600 citations

    2

    h-index

  3. CH
    Chad Haldeman‐Englert

    Children's Hospital of Philadelphia, United States

    1 publications · 52 citations

    1

    h-index

  4. RG
    Ronald G. Lafrenière

    McGill University, Canada

    1 publications · 320 citations

    1

    h-index

  5. ST
    Sachio Takashima

    National Center of Neurology and Psychiatry, Japan

    1 publications · 84 citations

    1

    h-index

1–5 of 232

Institutions

146

  1. Inserm

    Paris, France

    3 h-index

    13 publications

    1.8K citations

  2. Columbia University Irving Medical Center

    New York, United States

    2 h-index

    3 publications

    173 citations

  3. Université de Montréal

    Montreal, Canada

    2 h-index

    36 publications

    11.2K citations

  4. Harvard University

    Cambridge, United States

    2 h-index

    2 publications

    366 citations

  5. McGill University

    Montreal, Canada

    2 h-index

    2 publications

    600 citations

  6. University Medical Center Groningen

    Groningen, The Netherlands

    2 h-index

    3 publications

    371 citations

  7. Baylor College of Medicine

    Houston, United States

    2 h-index

    3 publications

    359 citations

  8. University of California, San Francisco

    San Francisco, United States

    2 h-index

    11 publications

    2.5K citations

1–8 of 146

Venues

  1. Cell Reports

    1 publications · 267 citations

    1

    h-index

  2. Frontiers in Behavioral Neuroscience

    1 publications · 113 citations

    1

    h-index

  3. Molecular Psychiatry

    1 publications · 320 citations

    1

    h-index

  4. Frontiers in Neuroscience

    1 publications · 67 citations

    1

    h-index

  5. Genetics in Medicine

    GIM · 1 publications · 52 citations

    1

    h-index

1–5