New approaches to gene discovery and characterization are advancing rapidly our
understanding of the genetic and phenotypic architecture of the epilepsies. This review …

Synaptopathies are a class of neurodevelopmental disorders caused by modification in
genes coding for synaptic proteins. These proteins oversee the process of …

Disease-causing variants in STXBP1 are among the most common genetic causes of
neurodevelopmental disorders. However, the phenotypic spectrum in STXBP1-related …

The revolution in genetic technology has ushered in a new age for our understanding of the
underlying causes of neurodevelopmental, neuromuscular and neurodegenerative …

Epilepsy is a common neurological disorder associated with alterations of excitation‐
inhibition balance within brain neuronal networks. GABAA receptor neurotransmission is the …

Heterozygous pathogenic variants in DNM1 cause developmental and epileptic
encephalopathy (DEE) as a result of a dominant-negative mechanism impeding vesicular …

The proper connection between the pre-and post-synaptic nervous cells depends on any
element constituting the synapse: the pre-and post-synaptic membranes, the synaptic cleft …

Abstract Purpose Synaptotagmin-1 (SYT1) is a critical mediator of neurotransmitter release
in the central nervous system. Previously reported missense SYT1 variants in the C2B …

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 …

SNAREs (soluble N-ethylmaleimide sensitive factor attachment protein receptor) are an
heterogeneous family of proteins that, together with their key regulators, are implicated in …