Found: 3

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  • SCN1A variants from bench to bedside—improved clinical prediction from functional characterization.

    Published in:
    Human Mutation, 2020, v. 41, n. 2, p. 363, doi. 10.1002/humu.23943
    By:
    • Brunklaus, Andreas;
    • Schorge, Stephanie;
    • Smith, Alexander D.;
    • Ghanty, Ismael;
    • Stewart, Kirsty;
    • Gardiner, Sarah;
    • Du, Juanjiangmeng;
    • Pérez‐Palma, Eduardo;
    • Symonds, Joseph D.;
    • Collier, Abby C.;
    • Lal, Dennis;
    • Zuberi, Sameer M.
    Publication type:
    Article

  • Genotype–phenotype associations in 1018 individuals with SCN1A‐related epilepsies.

    Published in:
    Epilepsia (Series 4), 2024, v. 65, n. 4, p. 1046, doi. 10.1111/epi.17882
    By:
    • Gallagher, Declan;
    • Pérez‐Palma, Eduardo;
    • Bruenger, Tobias;
    • Ghanty, Ismael;
    • Brilstra, Eva;
    • Ceulemans, Berten;
    • Chemaly, Nicole;
    • de Lange, Iris;
    • Depienne, Christel;
    • Guerrini, Renzo;
    • Mei, Davide;
    • Møller, Rikke S.;
    • Nabbout, Rima;
    • Regan, Brigid M.;
    • Schneider, Amy L.;
    • Scheffer, Ingrid E.;
    • Schoonjans, An‐Sofie;
    • Symonds, Joseph D.;
    • Weckhuysen, Sarah;
    • Zuberi, Sameer M.
    Publication type:
    Article

  • Biological concepts in human sodium channel epilepsies and their relevance in clinical practice.

    Published in:
    Epilepsia (Series 4), 2020, v. 61, n. 3, p. 387, doi. 10.1111/epi.16438
    By:
    • Brunklaus, Andreas;
    • Du, Juanjiangmeng;
    • Steckler, Felix;
    • Ghanty, Ismael I.;
    • Johannesen, Katrine M.;
    • Fenger, Christina Dühring;
    • Schorge, Stephanie;
    • Baez‐Nieto, David;
    • Wang, Hao‐Ran;
    • Allen, Andrew;
    • Pan, Jen Q.;
    • Lerche, Holger;
    • Heyne, Henrike;
    • Symonds, Joseph D.;
    • Zuberi, Sameer M.;
    • Sanders, Stephan;
    • Sheidley, Beth R.;
    • Craiu, Dana;
    • Olson, Heather E.;
    • Weckhuysen, Sarah
    Publication type:
    Article