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PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome
This work identifies PTPRD as the fourth genome-wide significant locus for RLS, and two independent SNPs in the 5′ UTR of splice variants expressed predominantly in the central nervous system showed highly significant P values.
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood
De novo ATP1A3 mutations are identified as the primary cause ofAlternating hemiplegia of childhood and insight into disease pathophysiology is offered by expanding the spectrum of phenotypes associated with mutations in ATP 1A3.
Genome-Wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1
Six RLS susceptibility loci of genome-wide significance are identified, two of them novel: an intergenic region on chromosome 2p14 (rs6747972), and a locus on 16q12.1 (rs3104767), a linkage disequilibrium block of 140 kb containing the 5′-end of TOX3 and the adjacent non-coding RNA BC034767.
Sleep disorders and daytime sleepiness in children with attention-deficit/hyperactivity disorder: a two-night polysomnographic study with a multiple sleep latency test.
Erratum: Narcolepsy is strongly associated with the T-cell receptor alpha locus
In the version of this article initially published, Seung-Chul Hong was incorrectly listed as Sheng Seung Chul Hong, and the error has been corrected in the HTML and PDF versions of the article.
ImmunoChip Study Implicates Antigen Presentation to T Cells in Narcolepsy
Recent advances in the identification of susceptibility genes and environmental exposures provide broad support for a post-infectious autoimmune basis for narcolepsy/hypocretin (orexin) deficiency.…
Common variants in P2RY11 are associated with narcolepsy
A SNP in the 3′ untranslated region of P2RY11, the purinergic receptor subtype P2Y11 gene, is identified as an important regulator of immune-cell survival, with possible implications in narcolepsy and other autoimmune diseases.
Replication of restless legs syndrome loci in three European populations
Among the known loci, BTBD9 seems to be the most consistent in its effect on RLS across populations and is also most independent of familial clustering.
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients
- E. Panagiotakaki, E. De Grandis, A. Arzimanoglou
- Medicine, BiologyOrphanet Journal of Rare Diseases
- 26 September 2015
A highly variable clinical phenotype in patients with AHC2 is demonstrated that correlates with certain mutations and possibly clusters within the ATP1A3 gene, and the spectrum of genotype-phenotype correlations is expanded.
Sleep disorders in Wilson’s disease
The aim of the study is to verify sleep co‐morbidity by questionnaire and objective sleep examinations (polysomnography, multiple sleep latency test) for Wilson’s disease patients.