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Sökning: WFRF:(Eeg Olofsson O)

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2.
  • Croona, C, et al. (författare)
  • Neuropsychological findings in children with benign childhood epilepsy with centrotemporal spikes
  • 1999
  • Ingår i: DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY. - : CAMBRIDGE UNIV PRESS. ; 41:12
  • Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
    • Benign childhood epilepsy with centrotemporal spikes (BCECTS) is a well-known idiopathic age- and localization-related epileptic syndrome with characteristic clinical and EEG manifestations. Due to the reported benign evolution of this epilepsy syndrome,
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3.
  • Edebol Eeg-Olofsson, K, et al. (författare)
  • Electroencephalographic Patterns in Epilepsy.
  • 2006
  • Ingår i: In: Paediatric Clinical Neurophysiology, K Edebol Eeg-Olofsson, ed. Mac Keith Press, London. ; , s. 175-200
  • Bokkapitel (populärvet., debatt m.m.)
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  • Chioza, B., et al. (författare)
  • Evaluation of CACNA1H in European patients with childhood absence epilepsy
  • 2006
  • Ingår i: Epilepsy Res. - : Elsevier BV. - 0920-1211. ; 69:2, s. 177-81
  • Tidskriftsartikel (refereegranskat)abstract
    • CACNA1H was evaluated in a resource of Caucasian European patients with childhood absence epilepsy by linkage analysis and typing of sequence variants previously identified in Chinese patients. Linkage analysis of 44 pedigrees provided no evidence for a locus in the CACNA1H region and none of the Chinese variants were found in 220 unrelated patients.
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7.
  • Everett, K. V., et al. (författare)
  • Linkage and association analysis of CACNG3 in childhood absence epilepsy
  • 2007
  • Ingår i: Eur J Hum Genet. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438. ; 15:4, s. 463-72
  • Tidskriftsartikel (refereegranskat)abstract
    • Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy characterised by absence seizures manifested by transitory loss of awareness with 2.5-4 Hz spike-wave complexes on ictal EEG. A genetic component to aetiology is established but the mechanism of inheritance and the genes involved are not fully defined. Available evidence suggests that genes encoding brain expressed voltage-gated calcium channels, including CACNG3 on chromosome 16p12-p13.1, may represent susceptibility loci for CAE. The aim of this work was to further evaluate CACNG3 as a susceptibility locus by linkage and association analysis. Assuming locus heterogeneity, a significant HLOD score (HLOD = 3.54, alpha = 0.62) was obtained for markers encompassing CACNG3 in 65 nuclear families with a proband with CAE. The maximum non-parametric linkage score was 2.87 (P < 0.002). Re-sequencing of the coding exons in 59 patients did not identify any putative causal variants. A linkage disequilibrium (LD) map of CACNG3 was constructed using 23 single nucleotide polymorphisms (SNPs). Transmission disequilibrium was sought using individual SNPs and SNP-based haplotypes with the pedigree disequilibrium test in 217 CAE trios and the 65 nuclear pedigrees. Evidence for transmission disequilibrium (P < or = 0.01) was found for SNPs within a approximately 35 kb region of high LD encompassing the 5'UTR, exon 1 and part of intron 1 of CACNG3. Re-sequencing of this interval was undertaken in 24 affected individuals. Seventy-two variants were identified: 45 upstream; two 5'UTR; and 25 intronic SNPs. No coding sequence variants were identified, although four variants are predicted to affect exonic splicing. This evidence supports CACNG3 as a susceptibility locus in a subset of CAE patients.
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9.
  • Lanzinger, S., et al. (författare)
  • A collaborative comparison of international pediatric diabetes registries
  • 2022
  • Ingår i: Pediatric Diabetes. - : Hindawi Limited. - 1399-543X .- 1399-5448. ; 23:6, s. 627-640
  • Tidskriftsartikel (refereegranskat)abstract
    • Background An estimated 1.1 million children and adolescents aged under 20 years have type 1 diabetes worldwide. Principal investigators from seven well-established longitudinal pediatric diabetes registries and the SWEET initiative have come together to provide an international collaborative perspective and comparison of the registries. Work Flow Information and data including registry characteristics, pediatric participant clinical characteristics, data availability and data completeness from the Australasian Diabetes Data Network (ADDN), Danish Registry of Childhood and Adolescent Diabetes (DanDiabKids), Diabetes prospective follow-up registry (DPV), Norwegian Childhood Diabetes Registry (NCDR), National Paediatric Diabetes Audit (NPDA), Swedish Childhood Diabetes Registry (Swediabkids), T1D Exchange Quality Improvement Collaborative (T1DX-QI), and the SWEET initiative was extracted up until 31 December 2020. Registry Objectives and Outcomes The seven diabetes registries and the SWEET initiative collectively show data of more than 900 centers and around 100,000 pediatric patients, the majority with type 1 diabetes. All share the common objectives of monitoring treatment and longitudinal outcomes, promoting quality improvement and equality in diabetes care and enabling clinical research. All generate regular benchmark reports. Main differences were observed in the definition of the pediatric population, the inclusion of adults, documentation of CGM metrics and collection of raw data files as well as linkage to other data sources. The open benchmarking and access to regularly updated data may prove to be the most important contribution from registries. This study describes aspects of the registries to enable future collaborations and to encourage the development of new registries where they do not exist.
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