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Topic: intellectual disabilities

ePoster
2 ePosters

In Neuroscience

ePoster · Neuroscience

Developmental trajectories of sleep EEG in neurodevelopmental disorders: Does sex matter?

Nataliia Kozhemiako, Shaun M. Purcell · FENS Forum 2024

We aimed to examine the effect of sex on maturational changes in sleep neurophysiology indexed by polysomnography in children with neurodevelopmental disorders(NDD) compared to non-NDD individuals. We utilized whole-night polysomnography data from a large pediatric (2.5 to 17.5 years) sample available at the National Sleep Research Resource. Using ICD codes, we defined the NDD subsets for ASD(N=196), ADHD(N=525), intellectual disabilities(ID, N=167), and a no-NDD sample(N=1523). The open-source package Luna was used to derive multiple sleep features, including sleep spindles, slow oscillations

ePoster · Neuroscience

A gain-of-function mutation in the CaMK4 gene induced elevated CaMK4 basal activity in vitro and altered spatial memory in a knock-in mouse model

Jacqueline Kaiser, Auriane Gerbelot-Barrillon, Lisa Murray-Segal, Bruce E. Kemp, Scott McLean, Anthony R. Means, Anthony J. Hannan, Andrew Gundlach, John W. Scott · FENS Forum 2024

The serine/threonine protein kinase, ‘Ca2+-calmodulin (CaM)-dependent protein kinase 4’ (CaMK4) regulates gene expression and protein activity in response to Ca2+-stimuli in brain neurons and modulates neuronal function and development, late long-term potentiation, memory formation and cognition [1,2]. Four patients have been identified with a de-novo mutation c.928A>G in the CaMK4 gene (S. McLean, unpublished data), resulting in a M310V variant in the autoinhibitory domain of CaMK4. Clinically, these patients display developmental delays and intellectual disabilities, in some cases accompa