Found: 3

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  • Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

    Published in:
    Nature Genetics, 2013, v. 45, n. 7, p. 825, doi. 10.1038/ng.2646
    By:
    • Carvill, Gemma L;
    • Heavin, Sinéad B;
    • Yendle, Simone C;
    • McMahon, Jacinta M;
    • O'Roak, Brian J;
    • Cook, Joseph;
    • Khan, Adiba;
    • Dorschner, Michael O;
    • Weaver, Molly;
    • Calvert, Sophie;
    • Malone, Stephen;
    • Wallace, Geoffrey;
    • Stanley, Thorsten;
    • Bye, Ann M E;
    • Bleasel, Andrew;
    • Howell, Katherine B;
    • Kivity, Sara;
    • Mackay, Mark T;
    • Rodriguez-Casero, Victoria;
    • Webster, Richard
    Publication type:
    Article

  • Genomic and clinical predictors of lacosamide response in refractory epilepsies.

    Published in:
    Epilepsia Open, 2019, v. 4, n. 4, p. 563, doi. 10.1002/epi4.12360
    By:
    • Heavin, Sinéad B.;
    • McCormack, Mark;
    • Wolking, Stefan;
    • Slattery, Lisa;
    • Walley, Nicole;
    • Avbersek, Andreja;
    • Novy, Jan;
    • Sinha, Saurabh R.;
    • Radtke, Rod;
    • Doherty, Colin;
    • Auce, Pauls;
    • Craig, John;
    • Johnson, Michael R.;
    • Koeleman, Bobby P. C.;
    • Krause, Roland;
    • Kunz, Wolfram S.;
    • Marson, Anthony G.;
    • O'Brien, Terence J.;
    • Sander, Josemir W.;
    • Sills, Graeme J.
    Publication type:
    Article

  • Early and effective treatment of KCNQ2 encephalopathy.

    Published in:
    Epilepsia (Series 4), 2015, v. 56, n. 5, p. 685, doi. 10.1111/epi.12984
    By:
    • Pisano, Tiziana;
    • Numis, Adam L.;
    • Heavin, Sinéad B.;
    • Weckhuysen, Sarah;
    • Angriman, Marco;
    • Suls, Arvid;
    • Podesta, Barbara;
    • Thibert, Ronald L.;
    • Shapiro, Kevin A.;
    • Guerrini, Renzo;
    • Scheffer, Ingrid E.;
    • Marini, Carla;
    • Cilio, Maria Roberta
    Publication type:
    Article