Original paper
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures
Abstract
The GPHN gene codes for gephyrin, a key scaffolding protein in the neuronal postsynaptic membrane, responsible for the clustering and localization of glycine and GABA receptors at inhibitory synapses. Gephyrin has well-established functional links with several synaptic proteins that have been implicated in genetic risk for neurodevelopmental disorders such as autism spectrum disorder (ASD), schizophrenia and epilepsy including the neuroligins...
Paper Details
Title
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures
Published Date
Feb 7, 2013
Journal
Volume
22
Issue
10
Pages
2055 - 2066
TrendsPro
You’ll need to upgrade your plan to Pro
Looking to understand a paper’s academic impact over time?
- Scinapse’s Citation Trends graph enables the impact assessment of papers in adjacent fields.
- Assess paper quality within the same journal or volume, irrespective of the year or field, and track the changes in the attention a paper received over time.
Citation AnalysisPro
You’ll need to upgrade your plan to Pro
Looking to understand the true influence of a researcher’s work across journals & affiliations?
- Scinapse’s Top 10 Citation Journals & Affiliations graph reveals the quality and authenticity of citations received by a paper.
- Discover whether citations have been inflated due to self-citations, or if citations include institutional bias.