Associated Papers
Molecular and cellular context influences SCN8A variant function.
Vanoye CG et al.
Jci Insight, 2024
Molecular and Cellular Context Influences SCN8A Variant Function.
Vanoye CG et al.
Biorxiv : the Preprint Server for Biology, 2023
Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disorders.
Klau J et al.
European Journal of Human Genetics : Ejhg, 2022
34690354 (PubMed )
Supplement: 41431_2021_981_MOESM3_ESM.xlsx › variants
Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life.
Staněk D et al.
Orphanet Journal of Rare Diseases, 2018
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