Understanding the cellular mechanisms responsible for neurodevelopmental encephalopathies – the example of STXBP1 encephalopathies Summary De novo mutations in Stxbp1 are among the most prevalent causes of neurodevelopmental disorders, and lead to...
Hippocampal gamma oscillations mediating cortico-hippocampal oscillations and shaping hippocampal temporal code Summary Theta sequences and phase precession shape hippocampal activity and are considered key underpinnings of memory formation. Theta sequences are sweeps...
Excitatory synapse regulators and their potential as therapeutic targets in chronic conditions Summary In this presentation, I will describe our recent work on a family of proteins with important roles in excitatory synapse development and maintenance. These proteins...
Genetic and environmental animal models of autism reproduce the spectrum of the disease Summary Genetic and environmental factors increase autism spectrum disorder (ASD) incidence and this has led to the generation of corresponding animal models, with some showing...
Disruption of the CoQ10 biosynthetic Complex Q causes mitochondrial dysfunction and Ca2+ imbalance in Purkinje neurons in COQ8A-ataxia Summary COQ8A-Ataxia is a rare form of neurodegenerative disorder due to mutations in the COQ8A gene. The encoded mitochondrial...
