Found: 7

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  • De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.

    Published in:
    2022
    By:
    • Manivannan, Sathiya N;
    • Roovers, Jolien;
    • Smal, Noor;
    • Myers, Candace T;
    • Turkdogan, Dilsad;
    • Roelens, Filip;
    • Kanca, Oguz;
    • Chung, Hyung-Lok;
    • Scholz, Tasja;
    • Hermann, Katharina;
    • Bierhals, Tatjana;
    • Caglayan, Hande S;
    • Stamberger, Hannah;
    • Consortium, MAE Working Group of EuroEPINOMICS RES;
    • Mefford, Heather;
    • Jonghe, Peter de;
    • Yamamoto, Shinya;
    • Weckhuysen, Sarah;
    • Bellen, Hugo J;
    • MAE Working Group of EuroEPINOMICS RES Consortium
    Publication type:
    journal article

  • KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.

    Published in:
    2021
    By:
    • Bonardi, Claudia M;
    • Heyne, Henrike O;
    • Fiannacca, Martina;
    • Fitzgerald, Mark P;
    • Gardella, Elena;
    • Gunning, Boudewijn;
    • Olofsson, Kern;
    • Lesca, Gaétan;
    • Verbeek, Nienke;
    • Stamberger, Hannah;
    • Striano, Pasquale;
    • Zara, Federico;
    • Mancardi, Maria M;
    • Nava, Caroline;
    • Syrbe, Steffen;
    • Buono, Salvatore;
    • Baulac, Stephanie;
    • Coppola, Antonietta;
    • Weckhuysen, Sarah;
    • Schoonjans, An-Sofie
    Publication type:
    journal article

  • Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A.

    Published in:
    NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0106-7
    By:
    • Steward, Charles A.;
    • Roovers, Jolien;
    • Suner, Marie-Marthe;
    • Gonzalez, Jose M.;
    • Uszczynska-Ratajczak, Barbara;
    • Pervouchine, Dmitri;
    • Fitzgerald, Stephen;
    • Viola, Margarida;
    • Stamberger, Hannah;
    • Hamdan, Fadi F.;
    • Ceulemans, Berten;
    • Leroy, Patricia;
    • Nava, Caroline;
    • Lepine, Anne;
    • Tapanari, Electra;
    • Keiller, Don;
    • Abbs, Stephen;
    • Sanchis-Juan, Alba;
    • Grozeva, Detelina;
    • Rogers, Anthony S.
    Publication type:
    Article

  • Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A.

    Published in:
    NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0106-7
    By:
    • Steward, Charles A.;
    • Roovers, Jolien;
    • Suner, Marie-Marthe;
    • Gonzalez, Jose M.;
    • Uszczynska-Ratajczak, Barbara;
    • Pervouchine, Dmitri;
    • Fitzgerald, Stephen;
    • Viola, Margarida;
    • Stamberger, Hannah;
    • Hamdan, Fadi F.;
    • Ceulemans, Berten;
    • Leroy, Patricia;
    • Nava, Caroline;
    • Lepine, Anne;
    • Tapanari, Electra;
    • Keiller, Don;
    • Abbs, Stephen;
    • Sanchis-Juan, Alba;
    • Grozeva, Detelina;
    • Rogers, Anthony S.
    Publication type:
    Article

  • Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.

    Published in:
    Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-018-07953-w
    By:
    • Siekierska, Aleksandra;
    • Stamberger, Hannah;
    • Deconinck, Tine;
    • Oprescu, Stephanie N.;
    • Partoens, Michèle;
    • Zhang, Yifan;
    • Sourbron, Jo;
    • Adriaenssens, Elias;
    • Mullen, Patrick;
    • Wiencek, Patrick;
    • Hardies, Katia;
    • Lee, Jeong-Soo;
    • Giong, Hoi-Khoanh;
    • Distelmaier, Felix;
    • Elpeleg, Orly;
    • Helbig, Katherine L.;
    • Hersh, Joseph;
    • Isikay, Sedat;
    • Jordan, Elizabeth;
    • Karaca, Ender
    Publication type:
    Article

  • Diagnostic implications of genetic copy number variation in epilepsy plus.

    Published in:
    Epilepsia (Series 4), 2019, v. 60, n. 4, p. 689, doi. 10.1111/epi.14683
    By:
    • Coppola, Antonietta;
    • Cellini, Elena;
    • Stamberger, Hannah;
    • Saarentaus, Elmo;
    • Cetica, Valentina;
    • Lal, Dennis;
    • Djémié, Tania;
    • Bartnik‐Glaska, Magdalena;
    • Ceulemans, Berten;
    • Helen Cross, J.;
    • Deconinck, Tine;
    • Masi, Salvatore De;
    • Dorn, Thomas;
    • Guerrini, Renzo;
    • Hoffman‐Zacharska, Dorotha;
    • Kooy, Frank;
    • Lagae, Lieven;
    • Lench, Nicholas;
    • Lemke, Johannes R.;
    • Lucenteforte, Ersilia
    Publication type:
    Article

  • Auditory Cortex tACS and tRNS for Tinnitus: Single versus Multiple Sessions.

    Published in:
    Neural Plasticity, 2014, v. 2014, p. 1, doi. 10.1155/2014/436713
    By:
    • Claes, Laura;
    • Stamberger, Hannah;
    • Van de Heyning, Paul;
    • De Ridder, Dirk;
    • Vanneste, Sven
    Publication type:
    Article