HIGHLIGHTS
- who: Jan Niklas Petry-Schmelzer from the (UNIVERSITY) have published the paper: Long-term benefit of pallidal deep brain stimulation in a patient with, in the Journal: (JOURNAL)
SUMMARY
Spasmodic Torticollis Rating Scale-Torticollis Severity Scale (TWSTRS-I): 16 points,-Disability Scale (TWSTRS-II): 13 points,-Pain Scale (TWSTRS-III): 5 points). It has also been identified in an independent, similarly affected patient, and is predicted to be deleterious by the CADD pathogenicity predictor (CADD score 37, https://cadd.gs.washington.edu/). Other heterozygous pLoFs have been reported to cause dystonia as . . .

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