Epileptogenesis in tuberous sclerosis complex-related developmental and epileptic encephalopathy

E Aronica, N Specchio, MJ Luinenburg, P Curatolo - Brain, 2023 - academic.oup.com
Epileptogenesis in infants with tuberous sclerosis complex (TSC) is a gradual and dynamic
process, leading to early onset and difficult-to-treat seizures. Several cellular, molecular and …

Functional characterization of human pluripotent stem cell-derived models of the brain with microelectrode arrays

A Pelkonen, C Pistono, P Klecki, M Gómez-Budia… - Cells, 2021 - mdpi.com
Human pluripotent stem cell (hPSC)-derived neuron cultures have emerged as models of
electrical activity in the human brain. Microelectrode arrays (MEAs) measure changes in the …

Large‐Area Field Potential Imaging Having Single Neuron Resolution Using 236 880 Electrodes CMOS‐MEA Technology

I Suzuki, N Matsuda, X Han, S Noji… - Advanced …, 2023 - Wiley Online Library
The electrophysiological technology having a high spatiotemporal resolution at the single‐
cell level and noninvasive measurements of large areas provide insights on underlying …

[HTML][HTML] Mapping cis-regulatory elements in human neurons links psychiatric disease heritability and activity-regulated transcriptional programs

C Sanchez-Priego, R Hu, LL Boshans, M Lalli… - Cell reports, 2022 - cell.com
Genome-wide association studies (GWASs) have identified hundreds of loci associated with
psychiatric diseases, yet there is a lack of understanding of disease pathophysiology …

The potential of in vitro neuronal networks cultured on micro electrode arrays for biomedical research

M Cerina, MC Piastra, M Frega - Progress in Biomedical …, 2023 - iopscience.iop.org
In vitro neuronal models have become an important tool to study healthy and diseased
neuronal circuits. The growing interest of neuroscientists to explore the dynamics of …

[HTML][HTML] Reduced MUNC18-1 levels, synaptic proteome changes, and altered network activity in STXBP1-related disorder patient neurons

AA van Berkel, HCA Lammertse, M Öttl… - … psychiatry global open …, 2024 - Elsevier
Background STXBP1-related disorder (STXBP1-RD) is a neurodevelopmental disorder
caused by pathogenic variants in the STXBP1 gene. Its gene product MUNC18-1 organizes …

Accelerating therapeutic development and clinical trial readiness for STXBP1 and SYNGAP1 disorders

N Marotta, MJ Boland, BL Prosser - Current Problems in Pediatric and …, 2024 - Elsevier
Gene-targeted therapies for genetic neurodevelopmental disorders (NDDs) are becoming a
reality. The Center for Epilepsy and Neurodevelopmental Disorders (ENDD) is currently …

Using Human‐Induced Pluripotent Stem Cell Derived Neurons on Microelectrode Arrays to Model Neurological Disease: A Review

S Lv, E He, J Luo, Y Liu, W Liang, S Xu… - Advanced …, 2023 - Wiley Online Library
In situ physiological signals of in vitro neural disease models are essential for studying
pathogenesis and drug screening. Currently, an increasing number of in vitro neural disease …

Human-derived cortical neurospheroids coupled to passive, high-density and 3D MEAs: a valid platform for functional tests

L Muzzi, D Di Lisa, M Falappa, S Pepe, A Maccione… - Bioengineering, 2023 - mdpi.com
With the advent of human-induced pluripotent stem cells (hiPSCs) and differentiation
protocols, methods to create in-vitro human-derived neuronal networks have been …

α-Synuclein pathology in Drosophila melanogaster is exacerbated by haploinsufficiency of Rop: connecting STXBP1 encephalopathy with α-synucleinopathies

T Matsuoka, H Yoshida, T Kasai… - Human Molecular …, 2024 - academic.oup.com
Abstract Syntaxin-binding protein 1 (STXBP1) is a presynaptic protein that plays important
roles in synaptic vesicle docking and fusion. STXBP1 haploinsufficiency causes STXBP1 …