Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)]

por Bouazzi, Habib, Lesca, Gaetan, Trujillo, Carlos, Alwasiyah, Mohammad Khalid, Munnich, Arnold
Publicado 2015

Are c.436G>A mutations less severe forms of Lafora disease? A case report()

por Lanoiselée, Hélène-Marie, Genton, Pierre, Lesca, Gaetan, Brault, Florence, De Toffol, Bertrand
Publicado 2014

Case report: Compound heterozygous NUP85 variants cause autosomal recessive primary microcephaly

por Ravindran, Ethiraj, Lesca, Gaetan, Januel, Louis, Goldgruber, Linus, Dickmanns, Achim, Margot, Henri, Kaindl, Angela M.
Publicado 2023

Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report

por Poisson, Alice, Chatron, Nicolas, Labalme, Audrey, Fourneret, Pierre, Ville, Dorothée, Mathieu, Marie Laure, Sanlaville, Damien, Demily, Caroline, Lesca, Gaëtan
Publicado 2020

Erotomania and phenotypic continuum in a family frameshift variant of AUTS2: a case report and review

por GAULD, Christophe, POISSON, Alice, REVERSAT, Julie, PEYROUX, Elodie, HOUDAYER-ROBERT, Françoise, ROSSI, Massimiliano, LESCA, Gaetan, SANLAVILLE, Damien, DEMILY, Caroline
Publicado 2021

A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability

por Sapey-Triomphe, Laurie-Anne, Reversat, Julie, Lesca, Gaëtan, Chatron, Nicolas, Bussa, Marina, Mazoyer, Sylvie, Schmitz, Christina, Sonié, Sandrine, Edery, Patrick
Publicado 2020

Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations

por Coton, Julie, Labalme, Audrey, Till, Marianne, Bussy, Gerald, Krifi Papoz, Sonia, Lesca, Gaetan, Heron, Delphine, Sanlaville, Damien, Edery, Patrick, des Portes, Vincent, Rossi, Massimiliano
Publicado 2018

Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170R

por Larasati, Yonika A., Solis, Gonzalo P., Koval, Alexey, Griffiths, Silja T., Berentsen, Ragnhild, Aukrust, Ingvild, Lesca, Gaetan, Chatron, Nicolas, Ville, Dorothée, Korff, Christian M., Katanaev, Vladimir L.
Publicado 2023

Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism

por Couarch, Philippe, Vernia, Santiago, Gourfinkel-An, Isabelle, Lesca, Gaëtan, Gataullina, Svetlana, Fedirko, Estelle, Trouillard, Oriane, Depienne, Christel, Dulac, Olivier, Steschenko, Dominique, Leguern, Eric, Sanz, Pascual, Baulac, Stéphanie
Publicado 2011

Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism

por Faoucher, Marie, Poulat, Anne-Lise, Chatron, Nicolas, Labalme, Audrey, Schluth-Bolard, Caroline, Till, Marianne, Vianey-Saban, Christine, Portes, Vincent Des, Edery, Patrick, Sanlaville, Damien, Lesca, Gaëtan, Acquaviva, Cécile
Publicado 2019

Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia

por Giraud, Sophie, Bardel, Claire, Dupuis-Girod, Sophie, Carette, Marie-France, Gilbert-Dussardier, Brigitte, Riviere, Sophie, Saurin, Jean-Christophe, Eyries, Mélanie, Patri, Sylvie, Decullier, Evelyne, Calender, Alain, Lesca, Gaëtan
Publicado 2020

Functional Characterization of Two Variants at the Intron 6—Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic Phenotypes

por Mosca, Ilaria, Rivolta, Ilaria, Labalme, Audrey, Ambrosino, Paolo, Castellotti, Barbara, Gellera, Cinzia, Granata, Tiziana, Freri, Elena, Binda, Anna, Lesca, Gaetan, DiFrancesco, Jacopo C., Soldovieri, Maria Virginia, Taglialatela, Maurizio
Publicado 2022

Postnatal clinical phenotype of five patients with Pallister–Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature

por Alqahtani, Amerh Salem, Putoux, Audrey, Bonnet Dupeyron, Marie Noelle, Carneiro, Maryline, Lion‐Francois, Laurence, Rossi, Massimiliano, Tevissen, Hélène, Schluth Bolard, Caroline, Labalme, Audrey, Lesca, Gaetan, Till, Marianne, Edery, Patrick, Sanlaville, Damien
Publicado 2019

Rare variants in the GABA(A) receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes

por Markus, Fenja, Angelini, Chloé, Trimouille, Aurelien, Rudolf, Gabrielle, Lesca, Gaetan, Goizet, Cyril, Lasseaux, Eulalie, Arveiler, Benoit, van Slegtenhorst, Marjon, Brooks, Alice S., Abou Jamra, Rami, Korenke, Georg‐Christoph, Neidhardt, John, Owczarek‐Lipska, Marta
Publicado 2020

Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene

por Benoit-Pilven, Clara, Besson, Alicia, Putoux, Audrey, Benetollo, Claire, Saccaro, Clément, Guguin, Justine, Sala, Gabriel, Cologne, Audric, Delous, Marion, Lesca, Gaetan, Padgett, Richard A., Leutenegger, Anne-Louise, Lacroix, Vincent, Edery, Patrick, Mazoyer, Sylvie
Publicado 2020

Infantile Convulsions with Paroxysmal Dyskinesia (ICCA Syndrome) and Copy Number Variation at Human Chromosome 16p11

por Roll, Patrice, Sanlaville, Damien, Cillario, Jennifer, Labalme, Audrey, Bruneau, Nadine, Massacrier, Annick, Délepine, Marc, Dessen, Philippe, Lazar, Vladimir, Robaglia-Schlupp, Andrée, Lesca, Gaëtan, Jouve, Elisabeth, Rudolf, Gabrielle, Rochette, Jacques, Lathrop, G. Mark, Szepetowski, Pierre
Publicado 2010

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

por Nappi, Mario, Barrese, Vincenzo, Carotenuto, Lidia, Lesca, Gaetan, Labalme, Audrey, Ville, Dorothee, Smol, Thomas, Rama, Mélanie, Dieux-Coeslier, Anne, Rivier-Ringenbach, Clotilde, Soldovieri, Maria Virginia, Ambrosino, Paolo, Mosca, Ilaria, Pusch, Michael, Miceli, Francesco, Taglialatela, Maurizio
Publicado 2022

Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder

por Masson, Julie, Demily, Caroline, Chatron, Nicolas, Labalme, Audrey, Rollat-Farnier, Pierre-Antoine, Schluth-Bolard, Caroline, Gilbert-Dussardier, Brigitte, Giuliano, Fabienne, Touraine, Renaud, Tordjman, Sylvie, Verloes, Alain, Testa, Giuseppe, Sanlaville, Damien, Edery, Patrick, Lesca, Gaetan, Rossi, Massimiliano
Publicado 2019

Functional correlates of clinical phenotype and severity in recurrent SCN2A variants

por Berecki, Géza, Howell, Katherine B., Heighway, Jacqueline, Olivier, Nelson, Rodda, Jill, Overmars, Isabella, Vlaskamp, Danique R. M., Ware, Tyson L., Ardern-Holmes, Simone, Lesca, Gaetan, Alber, Michael, Veggiotti, Pierangelo, Scheffer, Ingrid E., Berkovic, Samuel F., Wolff, Markus, Petrou, Steven
Publicado 2022

Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy

por Jacquier, Arnaud, Theuriet, Julian, Fontaine, Fanny, Mosbach, Valentine, Lacoste, Nicolas, Ribault, Shams, Risson, Valérie, Carras, Julien, Coudert, Laurent, Simonet, Thomas, Latour, Philippe, Stojkovic, Tanya, Piard, Juliette, Cosson, Anne, Lesca, Gaëtan, Bouhour, Françoise, Allouche, Stéphane, Puccio, Hélène, Pegat, Antoine, Schaeffer, Laurent
Publicado 2022