Taqman-based genotyping assays used to establish unique patient identities. (DOCX 17Â kb
Table S1. List of all 64 patients with known germline mutationsâ=âgroup K. With the exception of...
Table S1. PAH panel genes. Table S2. Variants of unknown significance (VUS) detected in the panel ge...
Figure S1. DNA sequence analysis of the exon 9 of GNAS gene. Figure S1 DNA sequence analysis of the ...
Clinical phenotype of patients with the three most common mutations, and of patients without and wit...
Primers used to sequence the ATP1A3 exons and adjacent splice sites. (DOCX 18Â kb
BACKGROUND: Mutations in the gene ATP1A3 have recently been identified to be prevalent in patients w...
Mutations in the gene ATP1A3 have recently been identified to be prevalent in patients with alternat...
Bi-allelic PTEN mutations in patient 3. The file consists of WES reads and clonal sequencing data to...
Video S1. Patient 1 (age 4Â years old) demonstrates chorea of her head, upper and lower extremities ...
Additional file 1: Supplementary Figure 1. Representative images of transfection efficiency of wild-...
Table S3. Family verification results. It is the first generation verification results of the varian...
Table S1. The expression levels of the 153 targeted genes in brain. Table S2. The quality assurance ...
Mutations in ATP1A3 cause Alternating Hemiplegia of Childhood (AHC) by disrupting function of the ne...
List of primers used for GBA gene sequencing. The exons and the exon-intron boundaries of the GBA ge...
Table S1. Dynamic mutation test results. It shows the triple nucleotide (CAG) repeat numbers of the ...
Table S1. List of all 64 patients with known germline mutationsâ=âgroup K. With the exception of...
Table S1. PAH panel genes. Table S2. Variants of unknown significance (VUS) detected in the panel ge...
Figure S1. DNA sequence analysis of the exon 9 of GNAS gene. Figure S1 DNA sequence analysis of the ...
Clinical phenotype of patients with the three most common mutations, and of patients without and wit...
Primers used to sequence the ATP1A3 exons and adjacent splice sites. (DOCX 18Â kb
BACKGROUND: Mutations in the gene ATP1A3 have recently been identified to be prevalent in patients w...
Mutations in the gene ATP1A3 have recently been identified to be prevalent in patients with alternat...
Bi-allelic PTEN mutations in patient 3. The file consists of WES reads and clonal sequencing data to...
Video S1. Patient 1 (age 4Â years old) demonstrates chorea of her head, upper and lower extremities ...
Additional file 1: Supplementary Figure 1. Representative images of transfection efficiency of wild-...
Table S3. Family verification results. It is the first generation verification results of the varian...
Table S1. The expression levels of the 153 targeted genes in brain. Table S2. The quality assurance ...
Mutations in ATP1A3 cause Alternating Hemiplegia of Childhood (AHC) by disrupting function of the ne...
List of primers used for GBA gene sequencing. The exons and the exon-intron boundaries of the GBA ge...
Table S1. Dynamic mutation test results. It shows the triple nucleotide (CAG) repeat numbers of the ...
Table S1. List of all 64 patients with known germline mutationsâ=âgroup K. With the exception of...
Table S1. PAH panel genes. Table S2. Variants of unknown significance (VUS) detected in the panel ge...
Figure S1. DNA sequence analysis of the exon 9 of GNAS gene. Figure S1 DNA sequence analysis of the ...