A line of evidence suggests that the pathophysiology of dystonia involves the striatum,
whose activity is modulated among other neurotransmitters, by the dopaminergic system …

Mutations in the GNAO1 gene cause a complex constellation of neurological disorders
including epilepsy, developmental delay, and movement disorders. GNAO1 encodes Gα o …

The G protein alpha subunit o (Gαo) is one of the most abundant proteins in the nervous
system, and pathogenic mutations in its gene (GNAO1) cause movement disorder. However …

Dystonia is a neurological disorder characterized by sustained or intermittent muscle
contractions causing abnormal movements and postures, often occurring in absence of any …

Dystonia is a clinically, genetically, and biologically heterogeneous hyperkinetic movement
disorder caused by the dysfunctional activity of neural circuits involved in motor control. Our …

Autism is characterized by atypical social communication and stereotyped behaviors.
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are detected in 1 …

A growing number of gain-of-function (GOF) BK channelopathies have been identified in
patients with epilepsy and movement disorders. Nevertheless, the underlying …

Dystonia is often associated with functional alterations in the cerebello-thalamic pathways,
which have been proposed to contribute to the disorder by propagating pathological firing …

Intracerebral recordings from movement disorders patients undergoing deep brain
stimulation have allowed the identification of pathophysiological patterns in oscillatory …

Clinical and experimental data indicate striatal cholinergic dysfunction in dystonia, a
movement disorder typically resulting in twisted postures via abnormal muscle contraction …