Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient
Abidi, Affef, Mignon-Ravix, Cécile, Cacciagli, Pierre, Girard, Nadine, Milh, Mathieu, Villard, Laurent
Published in European journal of human genetics : EJHG (01.04.2016)
Published in European journal of human genetics : EJHG (01.04.2016)
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A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels
Abidi, Affef, Devaux, Jérôme J, Molinari, Florence, Alcaraz, Gisèle, Michon, François-Xavier, Sutera-Sardo, Julie, Becq, Hélène, Lacoste, Caroline, Altuzarra, Cécilia, Afenjar, Alexandra, Mignot, Cyril, Doummar, Diane, Isidor, Bertrand, Guyen, Sylvie N, Colin, Estelle, De La Vaissière, Sabine, Haye, Damien, Trauffler, Adeline, Badens, Catherine, Prieur, Fabienne, Lesca, Gaetan, Villard, Laurent, Milh, Mathieu, Aniksztejn, Laurent
Published in Neurobiology of disease (01.08.2015)
Published in Neurobiology of disease (01.08.2015)
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Journal Article
Heterogeneity of FHF1 related phenotype: novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset seizures without neurodegeneration
Villeneuve, Nathalie, MD, Abidi, Affef, PhD, Cacciagli, Pierre, Mignon-Ravix, Cécile, PhD, Chabrol, Brigitte, MD, PhD, Villard, Laurent, PhD, Milh, Mathieu, MD, PhD
Published in European journal of paediatric neurology (01.09.2017)
Published in European journal of paediatric neurology (01.09.2017)
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Journal Article
A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression‐burst enhances Kv7/M channel activity
Devaux, Jérôme, Abidi, Affef, Roubertie, Agathe, Molinari, Florence, Becq, Hélène, Lacoste, Caroline, Villard, Laurent, Milh, Mathieu, Aniksztejn, Laurent
Published in Epilepsia (Copenhagen) (01.05.2016)
Published in Epilepsia (Copenhagen) (01.05.2016)
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Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases
Di Meglio, Chloé, Lesca, Gaetan, Villeneuve, Nathalie, Lacoste, Caroline, Abidi, Affef, Cacciagli, Pierre, Altuzarra, Cécilia, Roubertie, Agathe, Afenjar, Alexandra, Renaldo‐Robin, Florence, Isidor, Bertrand, Gautier, Agnes, Husson, Marie, Cances, Claude, Metreau, Julia, Laroche, Cécile, Chouchane, Mondher, Ville, Dorothée, Marignier, Stéphanie, Rougeot, Christelle, Lebrun, Marine, Saint Martin, Anne, Perez, Alexandra, Riquet, Audrey, Badens, Catherine, Missirian, Chantal, Philip, Nicole, Chabrol, Brigitte, Villard, Laurent, Milh, Mathieu
Published in Epilepsia (Copenhagen) (01.12.2015)
Published in Epilepsia (Copenhagen) (01.12.2015)
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Journal Article
Variable clinical expression in patients with mosaicism for KCNQ2 mutations
Milh, Mathieu, Lacoste, Caroline, Cacciagli, Pierre, Abidi, Affef, Sutera-Sardo, Julie, Tzelepis, Ilias, Colin, Estelle, Badens, Catherine, Afenjar, Alexandra, Coeslier, Anne Dieux, Dailland, Thomas, Lesca, Gaetan, Philip, Nicole, Villard, Laurent
Published in American journal of medical genetics. Part A (01.10.2015)
Published in American journal of medical genetics. Part A (01.10.2015)
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Journal Article
Epileptic patients with de novo STXBP 1 mutations: Key clinical features based on 24 cases
Di Meglio, Chloé, Lesca, Gaetan, Villeneuve, Nathalie, Lacoste, Caroline, Abidi, Affef, Cacciagli, Pierre, Altuzarra, Cécilia, Roubertie, Agathe, Afenjar, Alexandra, Renaldo‐Robin, Florence, Isidor, Bertrand, Gautier, Agnes, Husson, Marie, Cances, Claude, Metreau, Julia, Laroche, Cécile, Chouchane, Mondher, Ville, Dorothée, Marignier, Stéphanie, Rougeot, Christelle, Lebrun, Marine, de Saint Martin, Anne, Perez, Alexandra, Riquet, Audrey, Badens, Catherine, Missirian, Chantal, Philip, Nicole, Chabrol, Brigitte, Villard, Laurent, Milh, Mathieu
Published in Epilepsia (Copenhagen) (01.12.2015)
Published in Epilepsia (Copenhagen) (01.12.2015)
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