検索結果 - 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 著者: 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
出版事項 2022Artigo -
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Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome 著者: 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
出版事項 2010Artigo
関連主題
Biology
Epilepsy
Gene
Genetics
Mutation
Neuroscience
Allele
Biophysics
Cell biology
Chemistry
Dravet syndrome
Electrophysiology
Frameshift mutation
Genetic counseling
Hyperpolarization (physics)
Medicine
Membrane potential
Missense mutation
Nuclear magnetic resonance spectroscopy
Organic chemistry
Phenotype
Potassium channel
Proband
Protein subunit