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

Back to the article

Papers in this map

  1. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology · Sue M. Richards · 2015 · 33500 citations · Cited by this paper
  2. ILAE ‐ YES global webinar series: Integrating clinical and basic science in epilepsy research · 2026 · Related
  3. The FoldX web server: an online force field · Joost W. H. Schymkowitz · 2005 · 2947 citations · Cited by this paper
  4. KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity · 2026 · Related
  5. Accurate proteome-wide missense variant effect prediction with AlphaMissense · Jun Cheng · 2023 · 2246 citations · Cited by this paper
  6. Trends in antiseizure medication monotherapy for pediatric epilepsy in the United States · 2026 · Related
  7. De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy · Lieve R. F. Claes · 2001 · 1306 citations · Cited by this paper
  8. Cumulative electroconvulsive therapy sessions and focal epilepsy: A nationwide cohort study in Japan · 2026 · Related
  9. Simultaneous Optimization of Biomolecular Energy Functions on Features from Small Molecules and Macromolecules · Hahnbeom Park · 2016 · 656 citations · Cited by this paper
  10. Incidence and outcomes of childhood status epilepticus in Kano, northern Nigeria · 2026 · Related
  11. Ion Channel Voltage Sensors: Structure, Function, and Pathophysiology · William A. Catterall · 2010 · 579 citations · Cited by this paper
  12. Epilepsia open —April 2026 announcements · 2026 · Related
  13. Structure of the human voltage-gated sodium channel Na v 1.4 in complex with β1 · Xiaojing Pan · 2018 · 452 citations · Cited by this paper
  14. The Global Epilepsy Needs Study ( GENS ): A mixed‐methods, multi‐country exploration of the unmet psychosocial and everyday needs of people with epilepsy · 2026 · Related
  15. Structure of the Cardiac Sodium Channel · Daohua Jiang · 2019 · 361 citations · Cited by this paper
  16. Changes in effectiveness and safety in patients with Lennox–Gastaut syndrome transitioning from the fenfluramine randomized controlled trial to open‐label extension study · 2026 · Related
  17. Molecular basis for pore blockade of human Na + channel Na v 1.2 by the μ-conotoxin KIIIA · Xiaojing Pan · 2019 · 276 citations · Cited by this paper
  18. Artificial intelligence in the assessment of epilepsy‐related genetic mutations: Learned from GABA A receptors and GABA transporter 1 · 2026 · Related
  19. Gene variant effects across sodium channelopathies predict function and guide precision therapy · Andreas Brunklaus · 2022 · 111 citations · Cited by this paper
  20. Protein Structure Prediction and Design in a Biologically Realistic Implicit Membrane · Rebecca F. Alford · 2020 · 91 citations · Cited by this paper
  21. Structural Basis for High-Affinity Trapping of the NaV1.7 Channel in Its Resting State by Tarantula Toxin · Goragot Wisedchaisri · 2020 · 85 citations · Cited by this paper
  22. Structure of human Na v 1.5 reveals the fast inactivation-related segments as a mutational hotspot for the long QT syndrome · Zhangqiang Li · 2021 · 84 citations · Cited by this paper
  23. A rescuable folding defective Nav1.1 (SCN1A) sodium channel mutant causes GEFS+: Common mechanism in Nav1.1 related epilepsies? · Raffaella Rusconi · 2009 · 65 citations · Cited by this paper
  24. Unwinding and spiral sliding of S4 and domain rotation of VSD during the electromechanical coupling in Na v 1.7 · Gaoxingyu Huang · 2022 · 54 citations · Cited by this paper
  25. Rescuable folding defective NaV1.1 (SCN1A) mutants in epilepsy: Properties, occurrence, and novel rescuing strategy with peptides targeted to the endoplasmic reticulum · Giulia Bechi · 2015 · 48 citations · Cited by this paper
  26. Genotype–phenotype associations in 1018 individuals with SCN1A‐related epilepsies · D.S. Gallagher · 2024 · 39 citations · Cited by this paper
  27. Genotype‐function‐phenotype correlations for SCN1A variants identified by clinical genetic testing · Andrew T. Knox · 2025 · 6 citations · Cited by this paper
  28. The differential impacts of equivalent gating-charge mutations in voltage-gated sodium channels · Eslam Elhanafy · 2024 · 5 citations · Cited by this paper

Source: OpenAlex (CC0)