Search Results - Clotilde Rivier-Ringenbach

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    Gain of function due to increased opening probability by two <i>KCNQ5</i> pore variants causing developmental and epileptic encephalopathy

    Gain of function due to increased opening probability by two <i>KCNQ5</i> pore variants causing developmental and epileptic encephalopathy by Mario Nappi, Vincenzo Barrese, Lidia Carotenuto, Gaëtan Lesca, Audrey Labalme, Dorothée Ville, Thomas Smol, Mélanie Rama, Anne Dieux‐Coëslier, Clotilde Rivier-Ringenbach, Maria Virginia Soldovieri, Paolo Ambrosino, Ilaria Mosca, Michael Pusch, Francesco Miceli, Maurizio Taglialatela

    Published 2022
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    Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

    Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome by Christel Depienne, Oriane Trouillard, Isabelle Gourfinkel‐An, Cécile Saint‐Martin, Delphine Bouteiller, Denis Graber, Marie‐Anne Barthez‐Carpentier, Agnès Gautier, Nathalie Villeneuve, Charlotte Dravet, Marie-Odile Livet, Clotilde Rivier-Ringenbach, Claude Adam, Sabrina Dupont, Stéphanie Baulac, Delphine Héron, Rima Nabbout, Eric Leguern

    Published 2010
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