Article Figures & Data
Figures
- Figure Duplication Map of 16p11.2
Schematic representation of the duplicated 16p11.2 region using the University of California Santa Cruz Genome Browser (genome.ucsc.edu/). Top: a red rectangle indicates the duplicated region on the chromosome ideogram of 16p11.2. Bottom: a detailed map of the duplicated region, flanked by 2 blue lines, illustrates affected genomic coordinates and locations of Online Mendelian Inheritance in Man genes. Dark green boxes indicate disease-causing genes (e.g., PRRT2) for which the molecular basis of the disorder is known.
Tables
Video 1
In the initial scene our patient, age 5 years, is observed during an episode of paroxysmal kinesigenic dyskinesia. He has dystonia of the right arm and leg, mild athetosis of the trunk and both arms, and mild dysarthria. The episode abruptly resolves at 00:16. The second scene (00:18) demonstrates his usual baseline gait, with absent involuntary movements.Download Supplementary Video 1 via http://dx.doi.org/10.1212/000549_Video_1
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