Fusion of transmitter-containing vesicles with plasma membranes at the synaptic and
neuromuscular junctions mediates neurotransmission and muscle contractions, respectively …

Genetic research in Autism Spectrum Disorder (ASD) has progressed tremendously in
recent decades. Dozens of genetic loci and hundreds of alterations in the genetic sequence …

Background Large‐scale genome‐wide association studies (GWASs) have reported
multiple risk variants for Parkinson's disease (PD). However, little is known about how these …

Epilepsy is a widespread neurological disorder affecting more than 65 million people, but
the mechanisms of epilepsy remains unknown. Abnormal synaptic transmission has a …

Syntaxin-binding protein 6 (STXBP6), also known as amysin, is an essential component of
the SNAP receptor (SNARE) complex and plays a crucial role in neuronal vesicle trafficking …

In recent years, the affordability and availability of genetic testing have led to its increased
use in clinical care. The increased frequency of testing has led to STXBP1 variants being …

Abstract Alpha-synuclein (α-Syn) is a specific neuronal protein that regulates
neurotransmitter release and trafficking of synaptic vesicles. Exosome-associated α-Syn …

Introduction Exposure to heavy metal lead can cause serious health effects such as
developmental neurotoxicity in infants, cognitive impairment in children, and cardiovascular …

Objective EEG patterns and quantitative EEG (qEEG) features have been poorly explored in
monogenic epilepsies. Herein, we investigate regional differences in EEG frequency …

Developmental and epileptic encephalopathies (DEEs) are a group of neuropediatric
diseases associated with epileptic seizures, severe delay or regression of psychomotor …