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Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz   +3 more
wiley   +1 more source
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Social Classes in Europe

Portuguese Journal of Social Science, 2002
The current globalization context brings new questions to class analysis. After a brief review of the theoretical stance and the operationalization possibilities offered by today's sociology of social classes and stratification, this article presents a comparative analysis in which a selected set of social recomposition indicators is applied to the ...
Rosario Mauritti   +1 more
exaly   +2 more sources

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