Top associations from the gene-level case-control collapsing analyses.

<p>Top associations from the gene-level case-control collapsing analyses.</p

Ordered correlation matrices for the PVNH query and the fourteen loci significantly co-expressing within this node.

<p>Pairwise Pearson’s correlation represented as a matrix between (a) pairs of the 14 genes within the PVNH gene set (Methods) and (b) the human PVNH query plus the 14 genes whose co-regulatory patterns significantly exceed the eFDR in both the Kang and Miller transcriptomic datasets. Genes are ordered according to hierarchical clustering, with the most positive (+1) and negative (-1) co-regulatory interactions represented as blue and red squares, respectively.</p

<i>MAP1B</i> LoF qualifying variants identified in PVNH patients.

<p><i>MAP1B</i> LoF qualifying variants identified in PVNH patients.</p

Distribution of <i>MAP1B</i> LOF alleles in PVNH cases (red dots), in individuals from ExAC and gnomAD databases (blue dots with number of alleles observed represented by number of dots running vertically at this site), and in the Deciphering Developmental Disorders case (orange dot).

<p>A Sanger confirmed <i>de novo</i> variant is indicated with a white dot in the circle.</p

Genes with multiple <i>de novo</i> variants.

<p>Genes with multiple <i>de novo</i> variants.</p

Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

<p>Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry</p

Ages at unsupported sitting acquisition in each group of patients defined by their genotype.

<p>Cumulative probability of acquiring unsupported sitting by patients presenting the E815K mutation, compared to patientsmutation (3b). Patients with the E815K mutation are likely to gain unsupported sitting at a later age than patients in each of the other groups (respectively P = 0.0002 and P = 0.0020).</p

Summary of the 187 patients included in the genetic study.

<p>Summary of the 187 patients included in the genetic study.</p

Schematic representation of <i>ATP1A3</i> mutations.

<p>Mutations identified in our cohort are indicated above the gene; all the mutations previously published are indicated in black; novel mutations are indicated in light blue; mutations identified in multiplex cases are underlined; mutations reported in DYT12 are indicated in green; the mutation reported in CAPOS syndrome is indicated in red. The mutation associated with a phenotype combining features of both AHC and RDP is in orange. The 2 most common mutations are in bold. Asterisks mean that 2 different nucleotide changes have been identified for these protein variants.</p

Ages at onset of AHC in each group of patients defined by their genotype.

<p>The horizontal lines in the boxes indicate the 25th percentile (bottom), the median (middle) and the 75 percentile (top) values. Crosses indicate the mean values. Numbers of patients analyzed in each group are indicated above the boxes.</p