Search Results - Audrey Riquet

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  1. 1
    Experience of follow-up, quality of life, and transition from pediatric to adult healthcare of patients with tuberous sclerosis complex

    Experience of follow-up, quality of life, and transition from pediatric to adult healthcare of patients with tuberous sclerosis complex by Claire Bar, Rouba Ghobeira, Rita Azzi, Dorothée Ville, Audrey Riquet, Renaud Touraine, Nicole Chémaly, Rima Nabbout

    Published 2019
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  2. 2
    Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3

    Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3 by Pascal Sabouraud, Audrey Riquet, Marie‐Aude Spitz, Kumaran Deiva, Soňa Nevšímalová, Cyril Mignot, Gaëtan Lesca, Nathalie Bednarek, Diane Doummar, Christine Piétrement, Vincent Laugel

    Published 2019
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  3. 3
    Novel<i>KCNQ2</i>and<i>KCNQ3</i>Mutations in a Large Cohort of Families with Benign Neonatal Epilepsy: First Evidence for an Altered Channel Regulation by Syntaxin-1A

    Novel<i>KCNQ2</i>and<i>KCNQ3</i>Mutations in a Large Cohort of Families with Benign Neonatal Epilepsy: First Evidence for an Altered Channel Regulation by Syntaxin-1A by Maria Virginia Soldovieri, Nadia Boutry‐Kryza, Mathieu Milh, Diane Doummar, Bénédicte Héron, Emilie Bourel‐Ponchel, Paolo Ambrosino, Francesco Miceli, Michela De Maria, Nathalie Dorison, Stéphane Auvin, Bernard Échenne, Julie Oertel, Audrey Riquet, Laëtitia Lambert, Marion Gérard, Anne Roubergue, Alain Calender, Cyril Mignot, Maurizio Taglialatela, Gaëtan Lesca

    Published 2013
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  4. 4
    CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients

    CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients by Marie Le Roux, Magalie Barth, Sophie Guéden, Patrick Desbordes de Cepoy, Alec Aeby, Catheline Vilain, Édouard Hirsch, Anne de Saint Martin, Vincent des Portes, Gaëtan Lesca, Audrey Riquet, Laurence Chaton, Nathalie Villeneuve, Laurent Villard, Claude Cancès, Luc Valton, Florence Renaldo, Anne‐Isabelle Vermersch, Cécilia Altuzarra, Marie-Ange Nguyen-Morel, Julien Van‐Gils, Chloé Angelini, Arnaud Biraben, Lionel Arnaud, Florence Riant, Patrick Van Bogaert

    Published 2021
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    Epileptic patients with de novo <i><scp>STXBP</scp>1</i> mutations: Key clinical features based on 24 cases

    Epileptic patients with de novo <i><scp>STXBP</scp>1</i> mutations: Key clinical features based on 24 cases by Chloé Di Meglio, Gaëtan Lesca, Nathalie Villeneuve, Caroline Lacoste, Affef Abidi, Pierre Cacciagli, Cécilia Altuzarra, Agathe Roubertie, Alexandra Afenjar, Florence Renaldo‐Robin, Bertrand Isidor, Agnès Gautier, Marie Husson, Claude Cancès, Julia Métreau, Cécile Laroche, Mondher Chouchane, Dorothée Ville, Stéphanie Marignier, Christelle Rougeot, Marine Lebrun, Anne de Saint Martin, Alexandra Perez, Audrey Riquet, Catherine Badens, Chantal Missirian, Nicole Philip, B. Chabrol, Laurent Villard, Mathieu Milh

    Published 2015
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