A5081507308- Neuroscience and Neuropharmacology Research
- EEG and Brain-Computer Interfaces
- Epilepsy research and treatment
- Lipid Membrane Structure and Behavior
- Attention Deficit Hyperactivity Disorder
- Genetics and Neurodevelopmental Disorders
- Cellular transport and secretion
- Autism Spectrum Disorder Research
Vrije Universiteit Amsterdam
2024
Radboud University Nijmegen
2023
Radboud University Medical Center
2023
Amsterdam Neuroscience
2022
Amsterdam UMC Location Vrije Universiteit Amsterdam
2022
Abstract Dravet syndrome is a severe epileptic encephalopathy, characterized by (febrile) seizures, behavioural problems and developmental delay. Eighty per cent of patients with have mutation in SCN1A, encoding Nav1.1. Milder clinical phenotypes, such as GEFS+ (generalized epilepsy febrile seizures plus), can also arise from SCN1A mutations. Predicting the phenotypic outcome based on type remains challenging, even when same inherited within one family. This genetic heterogeneity adds to...
Pharmacological options for neurodevelopmental disorders are limited to symptom suppressing agents that do not target underlying pathophysiological mechanisms. Studies on specific genetic causing have elucidated mechanisms develop more rational treatments. Here, we present our concerted multi-level strategy 'BRAINMODEL', focusing excitation/inhibition ratio homeostasis across different levels of neuroscientific interrogation. The aim is personalized treatment strategies by linking iPSC-based...
Abstract Tomosyns are widely thought to attenuate membrane fusion by competing with synaptobrevin-2/VAMP2 for SNARE-complex assembly. Here, we present evidence against this scenario. In a novel mouse model, tomosyn-1/2 deficiency lowered the barrier and enhanced probability that synaptic vesicles fuse, resulting in stronger synapses faster depression slower recovery. While wild-type tomosyn-1m rescued these phenotypes, substitution of its SNARE motif did not. Single-molecule force...
Abstract Dravet syndrome is a severe epileptic encephalopathy, characterized by (febrile) seizures, behavioral problems and developmental delay. 80% of patients have mutation in SCN1A , encoding Na V 1.1. Milder clinical phenotypes, such as GEFS + (generalized epilepsy with febrile seizures plus), can also arise from s . Predicting the phenotypic outcome based on type remains challenging, even when same inherited within one family. Both this genetic heterogeneity add to difficulties...