Results 211 to 220 of about 6,687,153 (243)

Computational protein stability analysis of SCN1A missense variants reveals domain‐dependent stability patterns

open access: yesEpilepsia Open, EarlyView.
Abstract Objective To determine whether computational protein‐stability predictions discriminate pathogenic from benign SCN1A missense variants, and to characterize the structural distribution of predicted destabilization among pathogenic variants. Methods On an AlphaFold3‐predicted Nav1.1 structure, FoldX, and Rosetta Cartesian ΔΔG were computed for a
Youngkyu Shim   +3 more
wiley   +1 more source

Rare genetic variation in adults with surgically treated temporal lobe epilepsy: An exome sequencing study

open access: yesEpilepsia Open, EarlyView.
Abstract Objective To determine the frequency of monogenic variants and pathogenic copy number variants (CNVs) in adults with surgically treated temporal lobe epilepsy (TLE). Methods We performed exome sequencing (ES), including CNV analysis, in 45 adults with TLE who had previously undergone epilepsy surgery.
Antonia P. Pirker   +12 more
wiley   +1 more source

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