Found: 10

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  • KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP.

    Published in:
    2019
    By:
    • Kuchenbuch, Mathieu;
    • Barcia, Giulia;
    • Chemaly, Nicole;
    • Carme, Emilie;
    • Roubertie, Agathe;
    • Gibaud, Marc;
    • Bogaert, Patrick Van;
    • Martin, Anne de Saint;
    • Hirsch, Edouard;
    • Dubois, Fanny;
    • Sarret, Catherine;
    • Tich, Sylvie Nguyen The;
    • Laroche, Cecile;
    • Portes, Vincent des;
    • Villemeur, Thierry Billette de;
    • Barthez, Marie-Anne;
    • Auvin, Stéphane;
    • Bahi-Buisson, Nadia;
    • Desguerre, Isabelle;
    • Kaminska, Anna
    Publication type:
    journal article

  • Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.

    Published in:
    2017
    By:
    • Masnada, Silvia;
    • Hedrich, Ulrike B. S.;
    • Gardella, Elena;
    • Schubert, Julian;
    • Kaiwar, Charu;
    • Klee, Eric W.;
    • Lanpher, Brendan C.;
    • Gavrilova, Ralitza H.;
    • Synofzik, Matthis;
    • Bast, Thomas;
    • Gorman, Kathleen;
    • King, Mary D.;
    • Allen, Nicholas M.;
    • Conroy, Judith;
    • Ben Zeev, Bruria;
    • Tzadok, Michal;
    • Korff, Christian;
    • Dubois, Fanny;
    • Ramsey, Keri;
    • Narayanan, Vinodh
    Publication type:
    journal article

  • Microdeletion del(22)(q12.1) excluding the MN1 gene in a patient with craniofacial anomalies.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 498, doi. 10.1002/ajmg.a.37450
    By:
    • Bosson, Caroline;
    • Devillard, Françoise;
    • Satre, Véronique;
    • Dieterich, Klaus;
    • Ray, Pierre F.;
    • Morand, Béatrice;
    • Dubois‐Teklali, Fanny;
    • Vieville, Gaëlle;
    • Andrieux, Joris;
    • Brouillet, Sophie;
    • Amblard, Florence;
    • Jouk, Pierre‐Simon;
    • Coutton, Charles
    Publication type:
    Article

  • Benign paroxysmal torticollis, benign paroxysmal vertigo, and benign tonic upward gaze are not benign disorders.

    Published in:
    2018
    By:
    • Humbertclaude, Véronique;
    • Krams, Benjamin;
    • Nogue, Erika;
    • Nagot, Nicolas;
    • Annequin, Daniel;
    • Tourniaire, Barbara;
    • Tournier‐Lasserve, Elisabeth;
    • Riant, Florence;
    • Roubertie, Agathe;
    • Echenne, Bernard;
    • Nguyen, Marie‐Ange;
    • Doummar, Diane;
    • Milh, Mathieu;
    • Napuri, Silvia;
    • Lion‐François, Laurence;
    • Tardieu, Marc;
    • Cheuret, Emmanuel;
    • Spitz, Marie‐Aude;
    • Saint Martin, Anne;
    • Dubois, Fanny
    Publication type:
    journal article

  • Clustering syncope in a young male with temporal lobe seizures.

    Published in:
    Developmental Medicine & Child Neurology, 2006, v. 48, n. 8, p. 687, doi. 10.1017/S0012162206001447
    By:
    • Fanny Dubois-Teklali;
    • Marie-Ange Nguyen-Morel;
    • Wilfried Vadot;
    • Stephanie Douchin;
    • Pascal Defaye;
    • Laurent Vercueil
    Publication type:
    Article

  • Quantitative analysis and EEG markers of KCNT1 epilepsy of infancy with migrating focal seizures.

    Published in:
    Epilepsia (Series 4), 2019, v. 60, n. 1, p. 20, doi. 10.1111/epi.14605
    By:
    • Kuchenbuch, Mathieu;
    • Milh, Matthieu;
    • Villeneuve, Nathalie;
    • Chemaly, Nicole;
    • Nabbout, Rima;
    • Kaminska, Anna;
    • Barcia, Giulia;
    • Benquet, Pascal;
    • Modolo, Julien;
    • Wendling, Fabrice;
    • Roubertie, Agathe;
    • Carme, Emilie;
    • Saint Martin, Anne;
    • Hirsch, Edouard;
    • Dubois, Fanny;
    • Laroche, Cécile;
    • Sauleau, Paul
    Publication type:
    Article

  • Cognitive impairment in children with CACNA1A mutations.

    Published in:
    2020
    By:
    • Humbertclaude, Veronique;
    • Riant, Florence;
    • Krams, Benjamin;
    • Zimmermann, Valerie;
    • Nagot, Nicolas;
    • Annequin, Daniel;
    • Echenne, Bernard;
    • Tournier‐Lasserve, Elisabeth;
    • Roubertie, Agathe;
    • Bonnemains, Chrystelle;
    • Chabrier, Stéphane;
    • Cheuret, Emmanuel;
    • Doummar, Diane;
    • Dubois, Fanny;
    • Kossorotoff, Manoelle;
    • Leboucq, Nicolas;
    • Leydet, Julie;
    • Lion‐François, Laurence;
    • Meyer, Pierre;
    • Milh, Mathieu
    Publication type:
    journal article

  • Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy.

    Published in:
    Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00471-x
    By:
    • Guey, Stéphanie;
    • Hervé, Dominique;
    • Kossorotoff, Manoëlle;
    • Ha, Guillaume;
    • Aloui, Chaker;
    • Bergametti, Françoise;
    • Arnould, Minh;
    • Guenou, Hind;
    • Hadjadj, Jessica;
    • Dubois Teklali, Fanny;
    • Riant, Florence;
    • Balligand, Jean-Luc;
    • Uzan, Georges;
    • Villoutreix, Bruno O.;
    • Tournier-Lasserve, Elisabeth
    Publication type:
    Article

  • Cognitive disorders in pediatric medulloblastoma: what neuroimaging has to offer.

    Published in:
    Journal of Neurosurgery, 2014, p. 136, doi. 10.3171/2014.5.peds13571
    By:
    • DUC HA HOANG;
    • PAGNIER, ANNE;
    • GUICHARDET, KARINE;
    • PSY, M.;
    • DUBOIS-TEKLALI, FANNY;
    • SCHIFF, ISABELLE;
    • LYARD, GENEVIÈVE;
    • COUSIN, EMILIE;
    • KRAINIK, ALEXANDRE
    Publication type:
    Article

  • Mosaic DCX deletion causes subcortical band heterotopia in males.

    Published in:
    Neurogenetics, 2012, v. 13, n. 4, p. 367, doi. 10.1007/s10048-012-0339-4
    By:
    • Quélin, Chloé;
    • Saillour, Yoann;
    • Souville, Isabelle;
    • Poirier, Karine;
    • N'Guyen-Morel, Marie;
    • Vercueil, Laurent;
    • Millisher-Bellaiche, Anne;
    • Boddaert, Nathalie;
    • Dubois, Fanny;
    • Chelly, Jamel;
    • Beldjord, Cherif;
    • Bahi-Buisson, Nadia
    Publication type:
    Article