Relationship between plasma F₂-IsoPs and Xq28 size (univariate regression analysis).

<p>A positive linear relationship of plasma F₂-IsoPs vs. Xq28 duplication/triplication size is showed. The strength of the relationship is indicated by the correlation coefficient (r = 0.9181, P = 0.0098). The linear regression equation was reported.</p

Commonalities and differences between <i>MECP2</i> duplication syndrome and Rett syndrome.

<p>Commonalities and differences between <i>MECP2</i> duplication syndrome and Rett syndrome.</p

<i>MECP2</i> duplication syndrome: clinical features and genetic details.

<p><i>MECP2</i> duplication syndrome: clinical features and genetic details.</p

Oxidative stress marker plasma levels in MDS and RTT.

<p>Levels of NPBI, plasma free F₂-IsoPs, F₄-NeuroPs, and F₂-dihomo-IsoPs in MDS are compared with those of RTT and healthy control subjects. All the statistical significant differences were reported. Legend: ANOVA, analysis of variance; F₂-dihomo-isoPs, F₂-dihomo-isoprostanes; F₂-IsoPs, F₂-isoprostanes; F₄-NeuroPs, F₄-neuroprostanes; IE-NPBI, intraerythrocyte non protein bound iron; MDS, <i>MECP2</i> Duplication Syndrome; p-NPBI, plasma non protein bound; RTT, Rett syndrome.</p

Graphical view of the <i>MECP2</i> duplications/triplication.

<p>Graphical view of the <i>MECP2</i> duplications/triplication was created with custom tracks in the UCSC genome browser (GRCh37/hg19), (Patient 1 was identified with a triplication). The involved regions are shown in blue and <i>MECP2</i> is marked by a red circle.</p

Routine chemistry biomarkers in patients with <i>MECP2</i> duplication syndrome, Rett syndrome, and control subjects.

<p>Routine chemistry biomarkers in patients with <i>MECP2</i> duplication syndrome, Rett syndrome, and control subjects.</p

<i>RBFOX1and RBFOX3</i> variants and phenotype of index-patients.

<p>Survey on <i>RBFOX1</i> and <i>RBFOX3</i> variants in patients. Seizure type and comorbidity overview of variant carrier. Abbreviations: RE = rolandic epilepsy; CTS = centrotemporal spikes; ESES = epileptic encephalopathy with status epilepticus during sleep.</p

Gene-disrupting microdeletions found only in patients with genetic generalised epilepsy.

<p>GGE, genetic generalised epilepsy; CTR: population control; Chr: chromosome, start/end: genomic start and end point of the deleted segment, hg19; ^<i>P</i>-value: type-1 error rate for a χ2-test with df = 1; OR, 95%-CI, odds ratio with 95% confidence interval. Disease phenotype: ASD: autism spectrum disorder, ADHD: attention deficit hyperactivity disorder, AN: anorexia nervosa, AUT: autism, BPD: bipolar disorder, EE: epileptic encephalopathy, EPI: epilepsy, ID: intellectual disability, MCP: microcephaly, SCZ: schizophrenia; GGE syndromes: CAE: childhood absence epilepsy, JAE: juvenile absence epilepsy, JME: juvenile myoclonic epilepsy, EGMA: epilepsy with generalised tonic-clonic seizures alone predominantly on awakening, EGTCS: epilepsy with generalised tonic-clonic seizures alone, gsw: generalised spike and wave discharges on the electroencephalogram, number/: age-at-onset of afebrile generalised seizures. # previously published in [<a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1005226#pgen.1005226.ref026" target="_blank">26</a>] and * [<a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1005226#pgen.1005226.ref027" target="_blank">27</a>]. Bold gene symbols indicate genes previously implicated in epileptogenesis.</p><p>Gene-disrupting microdeletions found only in patients with genetic generalised epilepsy.</p

Functional gene enrichment and network analysis.

<p>Significant gene-set enrichments on 329 genes deleted in GGE patients revealed an enrichment of GRIN2B interacting proteins, genes of the MGI abnormal emotion/affect behaviour annotation and of the GO cognition annotation. Segmental clusters of genes belonging to a gene family were removed. Positional clustering of genes physically linked on a microdeletion is indicated by a slash between the gene symbols.</p><p>Functional gene enrichment and network analysis.</p