A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability
Published 2018 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability
Authors
Keywords
-
Journal
eLife
Volume 7, Issue -, Pages -
Publisher
eLife Sciences Organisation, Ltd.
Online
2018-05-22
DOI
10.7554/elife.32451
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Calmodulin kinases: essential regulators in health and disease
- (2017) Sayaka Takemoto-Kimura et al. JOURNAL OF NEUROCHEMISTRY
- A Novel Human CAMK2A Mutation Disrupts Dendritic Morphology and Synaptic Transmission, and Causes ASD-Related Behaviors
- (2017) Jason R. Stephenson et al. JOURNAL OF NEUROSCIENCE
- Reversal of Phenotypic Abnormalities by CRISPR/Cas9-Mediated Gene Correction in Huntington Disease Patient-Derived Induced Pluripotent Stem Cells
- (2017) Xiaohong Xu et al. Stem Cell Reports
- Molecular mechanism of activation-triggered subunit exchange in Ca2+/calmodulin-dependent protein kinase II
- (2016) Moitrayee Bhattacharyya et al. eLife
- Calcium/calmodulin-dependent kinase II and Alzheimer’s disease
- (2015) Anshua Ghosh et al. Molecular Brain
- The Molecular and Systems Biology of Memory
- (2014) Eric R. Kandel et al. CELL
- Temporal and Region-Specific Requirements of CaMKII in Spatial and Contextual Learning
- (2014) K. G. Achterberg et al. JOURNAL OF NEUROSCIENCE
- Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number
- (2014) Wen F. Hu et al. NEURON
- Emerging role of CaMKII in neuropsychiatric disease
- (2014) A.J. Robison TRENDS IN NEUROSCIENCES
- Activation-triggered subunit exchange between CaMKII holoenzymes facilitates the spread of kinase activity
- (2014) Margaret Stratton et al. eLife
- Genetics and the investigation of developmental delay/intellectual disability
- (2013) M. Srour et al. ARCHIVES OF DISEASE IN CHILDHOOD
- Structural studies on the regulation of Ca2+/calmodulin dependent protein kinase II
- (2013) Margaret M Stratton et al. CURRENT OPINION IN STRUCTURAL BIOLOGY
- In VivoNeuron-Wide Analysis of Synaptic Vesicle Precursor Trafficking
- (2013) Celine I. Maeder et al. TRAFFIC
- Neuronal excitability and calcium/calmodulin-dependent protein kinase type II: Location, location, location
- (2012) Xiao-Bo Liu et al. EPILEPSIA
- Aneuploidy causes proteotoxic stress in yeast
- (2012) A. B. Oromendia et al. GENES & DEVELOPMENT
- Genetic and Epigenetic Networks in Intellectual Disabilities
- (2011) Hans van Bokhoven Annual Review of Genetics
- Neural activity changes underlying the working memory deficit in alpha-CaMKII heterozygous knockout mice
- (2009) Naoki Matsuo Frontiers in Behavioral Neuroscience
- Global Developmental Delay and Mental Retardation or Intellectual Disability: Conceptualization, Evaluation, and Etiology
- (2008) Michael Shevell PEDIATRIC CLINICS OF NORTH AMERICA
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started