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See detailAssessing the role of rare genetic variants in drug-resistant, non-lesional focal epilepsy
Wolking, Stefan; Moreau, Claudia; McCormack, Mark et al

in Annals of Clinical and Translational Neurology (2021), n/a(n/a),

Abstract Objective Resistance to antiseizure medications (ASMs) is one of the major concerns in the treatment of epilepsy. Despite the increasing number of ASMs available, the proportion of individuals ... [more ▼]

Abstract Objective Resistance to antiseizure medications (ASMs) is one of the major concerns in the treatment of epilepsy. Despite the increasing number of ASMs available, the proportion of individuals with drug-resistant epilepsy remains unchanged. In this study, we aimed to investigate the role of rare genetic variants in ASM resistance. Methods We performed exome sequencing of 1,128 individuals with non-familial non-acquired focal epilepsy (NAFE) (762 non-responders, 366 responders) and were provided with 1,734 healthy controls. We undertook replication in a cohort of 350 individuals with NAFE (165 non-responders, 185 responders). We performed gene-based and gene-set-based kernel association tests to investigate potential enrichment of rare variants in relation to drug response status and to risk for NAFE. Results We found no gene or gene set that reached genome-wide significance. Yet, we identified several prospective candidate genes – among them DEPDC5, which showed a potential association with resistance to ASMs. We found some evidence for an enrichment of truncating variants in dominant familial NAFE genes in our cohort of non-familial NAFE and in association with drug-resistant NAFE. Interpretation Our study identifies potential candidate genes for ASM resistance. Our results corroborate the role of rare variants for non-familial NAFE and imply their involvement in drug-resistant epilepsy. Future large-scale genetic research studies are needed to substantiate these findings. [less ▲]

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See detailPractices and experiences of distant education during the COVID-19 pandemic: The perspectives of six- to sixteen-year-olds from three high-income countries
Kirsch, Claudine UL; Engel de Abreu, Pascale UL; Neumann, Sascha et al

in International Journal of Educational Research Open (2021), 2(2), 11

The paper explores children’s perspectives of distance education, their learning experiences and school satisfac- tion in Luxembourg, Germany and Switzerland during the first wave of the COVID-19 pandemic ... [more ▼]

The paper explores children’s perspectives of distance education, their learning experiences and school satisfac- tion in Luxembourg, Germany and Switzerland during the first wave of the COVID-19 pandemic. The data stem from an online questionnaire completed by 1773 primary and secondary school children aged 6–16. While the paper uses quantitative and qualitative data, it aligns with the qualitative research tradition and predominantly uses an inductive approach. The findings show that teachers offered varied types of distance education and that parents supported children. The children’s contact time with teachers and their time spent on schoolwork var- ied within and between countries. Their school satisfaction dropped in the three countries. The paper calls for training and development on distant education. [less ▲]

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See detailScience Inequalities
Kozlowski, Diego UL

Poster (2021, May 21)

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See detailHeterozygous variants in KCNC2 cause a broad spectrum of epilepsy phenotypes associated with characteristic functional alterations 2021.05.21.21257099
Schwarz, Niklas; Seiffert, Simone; Pendziwiat, Manuela et al

E-print/Working paper (2021)

Background KCNC2 encodes a member of the shaw-related voltage-gated potassium channel family (KV3.2), which are important for sustained high-frequency firing and optimized energy efficiency of action ... [more ▼]

Background KCNC2 encodes a member of the shaw-related voltage-gated potassium channel family (KV3.2), which are important for sustained high-frequency firing and optimized energy efficiency of action potentials in the brain.Methods Individuals with KCNC2 variants detected by exome sequencing were selected for clinical, further genetic and functional analysis. The cases were referred through clinical and research collaborations in our study. Four de novo variants were examined electrophysiologically in Xenopus laevis oocytes.Results We identified novel KCNC2 variants in 27 patients with various forms of epilepsy. Functional analysis demonstrated gain-of-function in severe and loss-of-function in milder phenotypes as the underlying pathomechanisms with specific response to valproic acid.Conclusion These findings implicate KCNC2 as a novel causative gene for epilepsy emphasizing the critical role of KV3.2 in the regulation of brain excitability with an interesting genotype-phenotype correlation and a potential concept for precision medicine. [less ▲]

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See detailUncertainty, precision and reliability of eco-hydrological models
Mingo Ndiwago, Damian UL

Presentation (2021, May 21)

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See detailGNSS-R GRAZING ANGLE FOR SEA ICE ALTIMETRY
Navarro Buendìa, Raquel UL

Poster (2021, May 21)

The grazing angle signals of opportunities from Global Navigation Satellite System (GNSS) are used to perform precise sea-ice altimetry. The novel GNSS-Reflectometry (GNSS-R) would help to better ... [more ▼]

The grazing angle signals of opportunities from Global Navigation Satellite System (GNSS) are used to perform precise sea-ice altimetry. The novel GNSS-Reflectometry (GNSS-R) would help to better understand the sea-ice distribution and classification in the polar regions. [less ▲]

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See detailIndividually Tailored Neurofeedback
Uslu, Sinan UL

Poster (2021, May 21)

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See detailPredicting well being in old age
Montorsi, Carlotta UL

Presentation (2021, May 21)

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See detailA data-driven computational framework to provide deformable solids with the sense of touch
Hurtado Cathalifaud, Diego Rene UL

Poster (2021, May 21)

A data-driven, probabilistic, computational framework will be developed that provides a deformable solid with the sense of 'touch', so that it can detect the shape and mechanical behaviour of its ... [more ▼]

A data-driven, probabilistic, computational framework will be developed that provides a deformable solid with the sense of 'touch', so that it can detect the shape and mechanical behaviour of its environment. The framework will rely on three modules: a mechanical model to simulate the contact between the deformable solid and its environment, a machine learning module to rapidly emulate the mechanical simulations, and a probabilistic framework to identify the shape and mechanical behaviour of the solid’s environment. [less ▲]

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See detailInteractions between the regulation of homosexuality and transsexuality since the enactment of the Transsexual Act
de Silva, Adrian UL

in History | Sexuality | Law (2021)

Drawing upon Federal Constitutional Court decisions on relevant provisions of the Transsexual Act and legislation on same-sex partnerships, this contribution traces how the regulation of homosexuality and ... [more ▼]

Drawing upon Federal Constitutional Court decisions on relevant provisions of the Transsexual Act and legislation on same-sex partnerships, this contribution traces how the regulation of homosexuality and transsexuality impacted upon each other since the Transsexual Act was enacted in the Federal Republic of Germany in 1981. [less ▲]

Detailed reference viewed: 67 (2 UL)
See detailTable ronde : comment faire réseau autour des archives du web ?
Schafer, Valerie UL

Scientific Conference (2021, May 17)

Table ronde : comment faire réseau autour des archives du web ? Intervenants : Emmanuelle Bermès (Bibliothèque nationale de France), Dominique Cardon (medialab, Sciences Po), Stéphanie Groudiev (Campus ... [more ▼]

Table ronde : comment faire réseau autour des archives du web ? Intervenants : Emmanuelle Bermès (Bibliothèque nationale de France), Dominique Cardon (medialab, Sciences Po), Stéphanie Groudiev (Campus Condorcet), Valérie Schafer (Université du Luxembourg) [less ▲]

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See detailSowjetesch Zwangsaarbechterinnen zu Lëtzebuerg
Ganschow, Inna UL; Delage, Michel

Article for general public (2021)

Honnerte vu jonke Meedercher aus der fréierer Sowjetunioun ware wärend dem Zweete Weltkrich vun Nazi-Däitschland gezwonge ginn, a Lëtzebuerger Betriber ze schaffen. D'Historikerin Inna Ganschow huet sech ... [more ▼]

Honnerte vu jonke Meedercher aus der fréierer Sowjetunioun ware wärend dem Zweete Weltkrich vun Nazi-Däitschland gezwonge ginn, a Lëtzebuerger Betriber ze schaffen. D'Historikerin Inna Ganschow huet sech fir d'Geschicht vun dëse Fraen interesséiert. Viru Kuerzem huet si fir den Nationale Resistenz-Musée eng Videokonferenz zu deem Thema gehalen. [less ▲]

Detailed reference viewed: 23 (1 UL)