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Background
Although the group of paroxysmal kinesigenic dyskinesia (PKD) genes is expanding, the molecular cause remains elusive in more than 50% of cases.
Objective
The aim is to identify the missing genetic causes of PKD.
Methods
Phenotypic characterization, whole exome sequencing and association test were performed among 53 PKD cases.
Results
We identified four causative variants in KCNJ10...
Background
Cervical dystonia (CD) is a form of isolated focal dystonia typically associated to abnormal head, neck, and shoulder movements and postures. The complexity of the clinical presentation limits the investigation of its pathophysiological mechanisms, and the neural networks associated to specific motor manifestations are still the object of debate.
Objectives
We investigated the morphometric...