Video S1. Patient 1 (age 4Â years old) demonstrates chorea of her head, upper and lower extremities characteristic of patients with ATP8A2 mutations. (MOV 7783 kb)

Table S6. Transcription factor binding site information for 55 highlighted CpG sites based on ENCODE data. (XLS 96 kb)

An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically inc...

Table S2. SNPs in the 40 top genes significantly associated (FDR pâ

Table S10. Gene boundaries, based on Ensembl transcripts for the 40 genes highlighted in the EWAS. (XLS 10 kb)

Video S4. Patient 4 demonstrating chorea as well as ptosis and ophthalmoplegia. (MOV 2274 kb)

Video S3. Patient 4 demonstrating dystonic posturing of her arms. (MOV 1273 kb)

FigureS2. Total collagen in kidneys of WT (white bars) and NOD1/2 DKO (black bars) mice after 0, 3, 7, and 14 days following obstruction. Total collagen was assessed by Picro Sirius Red staining which was digitally analysed (A, B). Data are expressed as mean ± SEM. N = ...

DNA replication during S phase involves thousands of replication forks that must be coordinated to ensure that every DNA section is replicated only once. The minichromosome maintenance proteins, MCM2 to MCM7, form a heteromeric DNA helicase required for both the initiat...

Figure S3. Renal inflammation in WT (white bars) and NOD1/2 DKO (black bars) mice after 0, 3, 7, and 14 days following obstruction. IL-1b (A) and TNF-α (B) were measured in total kidney homogenates with specific ELISAs. Data are expressed as mean ± SEM. Results were ana...