NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant
Mignon‐Ravix, Cécile, Riccardi, Florence, Daquin, Géraldine, Cacciagli, Pierre, Lamoureux‐Toth, Sylvie, Villard, Laurent, Villeneuve, Nathalie, Molinari, Florence
Published in Epilepsia (Copenhagen) (01.06.2023)
Published in Epilepsia (Copenhagen) (01.06.2023)
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Journal Article
Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression‐burst
Mignon‐Ravix, Cécile, Milh, Mathieu, Kaiser, Charlotte Sophia, Daniel, Jens, Riccardi, Florence, Cacciagli, Pierre, Nagara, Majdi, Busa, Tiffany, Liebau, Eva, Villard, Laurent
Published in Human mutation (01.07.2018)
Published in Human mutation (01.07.2018)
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Journal Article
Molecular characterization of a 1p36 chromosomal duplication and in utero interference define ENO1 as a candidate gene for polymicrogyria
El Waly, Bilal, Mignon-Ravix, Cécile, Cacciagli, Pierre, Buhler, Emmanuelle, Ben Zeev, Bruria, Villard, Laurent
Published in European journal of human genetics : EJHG (01.12.2020)
Published in European journal of human genetics : EJHG (01.12.2020)
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Journal Article
Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations
Milh, Mathieu, Villeneuve, Nathalie, Chouchane, Mondher, Kaminska, Anna, Laroche, Cécile, Barthez, Marie Anne, Gitiaux, Cyril, Bartoli, Céline, Borges‐Correia, Ana, Cacciagli, Pierre, Mignon‐Ravix, Cécile, Cuberos, Hélène, Chabrol, Brigitte, Villard, Laurent
Published in Epilepsia (Copenhagen) (01.10.2011)
Published in Epilepsia (Copenhagen) (01.10.2011)
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Journal Article
Intragenic rearrangements in X-linked intellectual deficiency: Results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes
Mignon-Ravix, Cécile, Cacciagli, Pierre, Choucair, Nancy, Popovici, Cornel, Missirian, Chantal, Milh, Mathieu, Mégarbané, André, Busa, Tiffany, Julia, Sophie, Girard, Nadine, Badens, Catherine, Sigaudy, Sabine, Philip, Nicole, Villard, Laurent
Published in American journal of medical genetics. Part A (01.08.2014)
Published in American journal of medical genetics. Part A (01.08.2014)
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Journal Article
Recurrent rearrangements in the proximal 15q11-q14 region: a new breakpoint cluster specific to unbalanced translocations
MIGNON-RAVIX, Cécile, DEPETRIS, Danielle, KROISEL, Peter M, MATTEI, Marie-Geneviève, LUCIANI, Judith J, CUOCO, Cristina, KRAJEWSKA-WALASEK, Malgorzata, MISSIRIAN, Chantal, COLLIGNON, Patrick, DELOBEL, Bruno, CROQUETTE, Marie-Francoise, MONCLA, Anne
Published in European journal of human genetics : EJHG (01.04.2007)
Published in European journal of human genetics : EJHG (01.04.2007)
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Journal Article
Clinical study of 19 patients with SCN8A‐related epilepsy: Two modes of onset regarding EEG and seizures
Denis, Julien, Villeneuve, Nathalie, Cacciagli, Pierre, Mignon‐Ravix, Cecile, Lacoste, Caroline, Lefranc, Jeremie, Napuri, Sylvia, Damaj, Lena, Villega, Frederic, Pedespan, Jean‐Michel, Moutton, Sebastien, Mignot, Cyril, Doummar, Diane, Lion‐François, Laurence, Gataullina, Svetlana, Dulac, Olivier, Martin, Melanie, Gueden, Sophie, Lesca, Gaetan, Julia, Sophie, Cances, Claude, Journel, Hubert, Altuzarra, Cecilia, Ben Zeev, Bruria, Afenjar, Alexandra, Barth, Magalie, Villard, Laurent, Milh, Mathieu
Published in Epilepsia (Copenhagen) (01.05.2019)
Published in Epilepsia (Copenhagen) (01.05.2019)
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Journal Article
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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Journal Article
A large consanguineous family with a homozygous Metabotropic Glutamate Receptor 7 (mGlu7) variant and developmental epileptic encephalopathy: Effect on protein structure and ligand affinity
Jdila, Marwa Ben, Mignon-Ravix, Cécile, Ncir, Sihem Ben, Kammoun, Fatma, Fakhfakh, Faiza, Villard, Laurent, Triki, Chahnez
Published in Orphanet journal of rare diseases (17.07.2021)
Published in Orphanet journal of rare diseases (17.07.2021)
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Journal Article
Mechanism of intrachromosomal triplications 15q11‐q13: A new clinical report
Vialard, François, Mignon‐Ravix, Cécile, Parain, Dominique, Depetris, Danielle, Portnoï, Marie‐France, Moirot, Hélène, Mattei, Marie‐Geneviève
Published in American journal of medical genetics. Part A (30.04.2003)
Published in American journal of medical genetics. Part A (30.04.2003)
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Journal Article
Loss of NDST1 N-sulfotransferase activity is associated with autosomal recessive intellectual disability
Khosrowabadi, Elham, Mignon-Ravix, Cécile, Riccardi, Florence, Cacciagli, Pierre, Desnous, Béatrice, Sigaudy, Sabine, Milh, Mathieu, Villard, Laurent, Kjellén, Lena, Molinari, Florence
Published in Human molecular genetics (28.02.2024)
Published in Human molecular genetics (28.02.2024)
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Journal Article
TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype
Abaji, Mario, Mignon-Ravix, Cécile, Gorokhova, Svetlana, Cacciagli, Pierre, Mortreux, Jérémie, Molinari, Florence, Chabrol, Brigitte, Sigaudy, Sabine, Villard, Laurent, Riccardi, Florence
Published in Journal of medical genetics (01.10.2023)
Published in Journal of medical genetics (01.10.2023)
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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, Abidi, Affef, Cacciagli, Pierre, Mignon-Ravix, Cécile, Chabrol, Brigitte, Villard, Laurent, Milh, Mathieu
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
Mosaicism of XX and XXY cells accounts for high copy number of Toll like Receptor 7 and 8 genes in peripheral blood of men with Rheumatoid Arthritis
Martin, Gabriel V, Kanaan, Sami B, Hemon, Marie F, Azzouz, Doua F, El Haddad, Marina, Balandraud, Nathalie, Mignon-Ravix, Cécile, Picard, Christophe, Arnoux, Fanny, Martin, Marielle, Roudier, Jean, Auger, Isabelle, Lambert, Nathalie C
Published in Scientific reports (09.09.2019)
Published in Scientific reports (09.09.2019)
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Journal Article
Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype
CACCIAGLI, Pierre, HADDAD, Marie-Reine, MIGNON-RAVIX, Cécile, EL-WALY, Bilal, MONCIA, Anne, MISSIRIAN, Chantal, CHABROL, Brigitte, VILLARD, Laurent
Published in European journal of human genetics : EJHG (01.12.2010)
Published in European journal of human genetics : EJHG (01.12.2010)
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Journal Article
Clinical study of 19 patients with SCN 8A ‐related epilepsy: Two modes of onset regarding EEG and seizures
Denis, Julien, Villeneuve, Nathalie, Cacciagli, Pierre, Mignon‐Ravix, Cecile, Lacoste, Caroline, Lefranc, Jeremie, Napuri, Sylvia, Damaj, Lena, Villega, Frederic, Pedespan, Jean‐Michel, Moutton, Sebastien, Mignot, Cyril, Doummar, Diane, Lion‐François, Laurence, Gataullina, Svetlana, Dulac, Olivier, Martin, Melanie, Gueden, Sophie, Lesca, Gaetan, Julia, Sophie, Cances, Claude, Journel, Hubert, Altuzarra, Cecilia, Ben Zeev, Bruria, Afenjar, Alexandra, Barth, Magalie, Villard, Laurent, Milh, Mathieu
Published in Epilepsia (Copenhagen) (01.05.2019)
Published in Epilepsia (Copenhagen) (01.05.2019)
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Journal Article
N°179 – NAPB and developmental and epileptic encephalopathy: Description of the electro-clinical profile associated to a novel pathogenic variant
Mignon-Ravix, Cécile, Riccardi, Florence, Daquin, Géraldine, Cacciagli, Pierre, Lamoureux-Toth, Sylvie, Villard, Laurent, Villeneuve, Nathalie, Molinari, Florence
Published in Clinical neurophysiology (01.06.2023)
Published in Clinical neurophysiology (01.06.2023)
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Journal Article
Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia
Mignon-Ravix, Cécile, Cacciagli, Pierre, El-Waly, Bilal, Moncla, Anne, Milh, Mathieu, Girard, Nadine, Chabrol, Brigitte, Philip, Nicole, Villard, Laurent
Published in Journal of medical genetics (01.02.2010)
Published in Journal of medical genetics (01.02.2010)
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Journal Article
Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features
Haddad, Marie-Reine, Mignon-Ravix, Cécile, Cacciagli, Pierre, Mégarbané, André, Villard, Laurent
Published in European journal of medical genetics (01.07.2009)
Published in European journal of medical genetics (01.07.2009)
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Journal Article
Mosaicism of XX and XXY cells accounts for high copy number of Toll like Receptor 7 and8 genes in peripheral blood of men with Rheumatoid Arthritis
Martin, Gabriel V., Kanaan, Sami B., Hemon, Marie F., Azzouz, Doua F., El Haddad, Marina, Balandraud, Nathalie, Mignon-Ravix, Cécile, Picard, Christophe, Arnoux, Fanny, Martin, Marielle, Roudier, Jean, Auger, Isabelle, Lambert, Nathalie C.
Published in Scientific reports (09.09.2019)
Published in Scientific reports (09.09.2019)
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Journal Article