Marie Vidailhet

TL;DR: The view that a global abnormal somatosensory coupling in focal hand dystonia may contribute to an inadequate motor command to wrist muscles is supported.

TL;DR: A multi-center, mixed-methodology study to investigate 40 consecutive patients presenting with POT to four movement disorder centers in France confirmed that HQoL in POT is severely affected and revealed themes not identified by the quantitative approach.

TL;DR: It is shown that downregulation of the Oprk1 orthologue in zebrafish induces a hyperkinetic phenotype in early development, which could represent a novel therapeutic target in this disorder.

TL;DR: The case of a 25‐year‐old woman with triple A syndrome and gene mutation, who, during the long follow‐up period of 23 years, developed myoclonus of the face and the upper limbs and widespread digestive dysmotility, involving small bowels and gall bladder, illustrates an extension of the cerebral and digestive neurological involvement in this syndrome.

TL;DR: Most reported patients carrying GNAO1 mutations showed a severe phenotype characterized by early‐onset epileptic encephalopathy and/or chorea.