In this review, we describe and discuss neurodevelopmental phenotypes arising from rare,
high penetrance genomic variants which directly influence synaptic vesicle cycling (SVC …

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 …

DHX30 is a member of the family of DExH-box helicases, which use ATP hydrolysis to
unwind RNA secondary structures. Here we identified six different de novo missense …

Genetic early-onset parkinsonism presenting from infancy to adolescence (≤ 21 years old)
is a clinically diverse syndrome often combined with other hyperkinetic movement disorders …

Abstract Mutations in the Tre2/Bub2/Cdc16 (TBC) 1 domain family member 24 (TBC1D24)
gene are associated with a range of inherited neurological disorders, from drug-refractory …

Abstract Purpose of Review Hyperkinetic movement disorders can manifest alone or as part
of complex phenotypes. In the era of next-generation sequencing (NGS), the list of …

The links between the two archetypical basal ganglia disorders, dystonia and parkinsonism,
are manifold and stem from clinical observations, imaging studies, animal models and …

Purpose Contiguous gene deletions are known to cause several neurodevelopmental
syndromes, many of which are caused by recurrent events on chromosome 16. However …

Epilepsy, deafness, onychodystrophy, osteodystrophy and intellectual disability are
associated with a spectrum of mutations of human TBC1D24. The mechanisms underlying …

Abstract The family of Tre2‐Bub2‐Cdc16 (TBC)‐domain containing GTPase activating
proteins (RABGAPs) is not only known as key regulatorof RAB GTPase activity but also has …