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Träfflista för sökning "WFRF:(Covanis Athanasios) srt2:(2009)"

Search: WFRF:(Covanis Athanasios) > (2009)

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1.
  • Chioza, Barry A., et al. (author)
  • Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14
  • 2009
  • In: Epilepsy Research. - : Elsevier BV. - 0920-1211 .- 1872-6844. ; 87:2-3, s. 247-255
  • Journal article (peer-reviewed)abstract
    • Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy (IGE) characterised by typical absence seizures manifested by transitory loss of awareness with 2.5-4 Hz spike-wave complexes on ictal EEG. A genetic component to the aetiology is well recognised but the mechanism of inheritance and the genes involved are yet to be fully established. A genome wide single nucleotide polymorphism (SNP)-based high density linkage scan was carried out using 41 nuclear pedigrees with at least two affected members. Multipoint parametric and non-parametric linkage analyses were performed using MERLIN 1.1.1 and a susceptibility locus was identified on chromosome 3p23-p14 (Z(mean)=3.9, p<0.0001; HLOD=3.3, alpha=0.7). The linked region harbours the functional candidate genes TRAK1 and CACNA2D2. Fine-mapping using a tagSNP approach demonstrated disease association with variants in TRAK1.
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2.
  • Wraith, James E., et al. (author)
  • Recommendations on the diagnosis and management of Niemann-Pick disease type C
  • 2009
  • In: Molecular Genetics and Metabolism. - : Elsevier BV. - 1096-7192. ; 98:1-2, s. 152-165
  • Journal article (other academic/artistic)abstract
    • Niemann-Pick disease type C (NP-C) is a lysosomal storage disease in which impaired intracellular lipid trafficking leads to excess storage of cholesterol and glycosphingolipids in the brain and other tissues. it is characterized clinically by a variety of progressive, disabling neurological symptoms including clumsiness, limb and gait ataxia, dysarthria, dysphagia and cognitive deterioration (dementia). Until recently, there has been no disease-modifying therapy available for NP-C, with treatment limited to supportive measures. In most countries, NP-C is managed through specialist centers, with non-specialist support provided locally. However, effective patient Support is hampered by the absence of national or international clinical management guidelines. In this paper, we seek to address this important gap in the Current literature. An expert panel Was convened in Paris, France in January 2009 to discuss best care practices for NP-C. This commentary reviews Current literature on key aspects of the clinical management of NP-C in children, juveniles and adults, and provides recommendations based on consensus between the experts at the meeting. (C) 2009 Elsevier Inc. All rights reserved.
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