IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
par Mignot, Cyril;McMahon, Aoife AC;Bar, Claire;Campeau, Philippe PM;Davidson, Claire;Buratti, Julien;Nava, Caroline;Jacquemont, Marie-Line;Tallot, Marilyn;Milh, Mathieu;Edery, Patrick;Marzin, Pauline;Barcia, Giulia;Barnerias, Christine;Besmond, Claude;Bienvenu, Thierry;Bruel, Ange Line;Brunga, Ledia;Ceulemans, Berten;Coubes, Christine;Cristancho, Ana AG;Cunningham, Fiona;Dehouck, Marie-Bertille;Donner, Elizabeth J;Duban-Bedu, Bénédicte;Dubourg, Christèle;Gardella, Elena;Gauthier, Julie;Geneviève, David;Gobin-Limballe, Stéphanie;Goldberg, Ethan EM;Hagebeuk, Eveline;Hamdan, Fadi F.F.;Hančárová, Miroslava;Hubert, Laurence;Ioos, Christine;Ichikawa, Shoji;Janssens, Sandra;Journel, Hubert;Kaminska, Anna;Keren, Boris;Koopmans, Marije;Lacoste, Caroline;Laššuthová, Petra;Lederer, Damien;Lehalle, Daphné;Marjanovic, Dragan;Métreau, Julia;Michaud, Jacques J.L.;Miller, Kathryn;Minassian, Berge BA;Morales, Joannella;Moutard, Marie-Laure;Munnich, Arnold;Ortiz-Gonzalez, Xilma XR;Pinard, Jean-Marc;Prchalová, Darina;Putoux, Audrey;Quelin, Chloé;Rosen, Alyssa R;Roume, Joelle;Rossignol, Elsa;Simon, Marleen E H;Smol, Thomas;Shur, Natasha;Shelihan, Ivan;Štěrbová, Katalin;Vyhnálková, Emílie;Vilain, Catheline 
;Soblet, Julie ;Smits, Guillaume ;Yang, Samuel P;van der Smagt, Jasper JJ;van Hasselt, Peter M;van Kempen, Marjan;Weckhuysen, Sarah;Helbig, Ingo;Villard, Laurent;Héron, Delphine;Koeleman, Bobby B.P.C.;Møller, Rikke RS;Lesca, Gaetan;Helbig, Katherine KL;Nabbout, Rima ;Verbeek, Nienke NE;Depienne, Christel
Référence Genetics in medicine, 21, 4, page (837-849)
Publication Publié, 2019-11-01
;Soblet, Julie ;Smits, Guillaume ;Yang, Samuel P;van der Smagt, Jasper JJ;van Hasselt, Peter M;van Kempen, Marjan;Weckhuysen, Sarah;Helbig, Ingo;Villard, Laurent;Héron, Delphine;Koeleman, Bobby B.P.C.;Møller, Rikke RS;Lesca, Gaetan;Helbig, Katherine KL;Nabbout, Rima ;Verbeek, Nienke NE;Depienne, ChristelRéférence Genetics in medicine, 21, 4, page (837-849)
Publication Publié, 2019-11-01
Article révisé par les pairs
| Titre: |
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| Auteur: | Mignot, Cyril; McMahon, Aoife AC; Bar, Claire; Campeau, Philippe PM; Davidson, Claire; Buratti, Julien; Nava, Caroline; Jacquemont, Marie-Line; Tallot, Marilyn; Milh, Mathieu; Edery, Patrick; Marzin, Pauline; Barcia, Giulia; Barnerias, Christine; Besmond, Claude; Bienvenu, Thierry; Bruel, Ange Line; Brunga, Ledia; Ceulemans, Berten; Coubes, Christine; Cristancho, Ana AG; Cunningham, Fiona; Dehouck, Marie-Bertille; Donner, Elizabeth J; Duban-Bedu, Bénédicte; Dubourg, Christèle; Gardella, Elena; Gauthier, Julie; Geneviève, David; Gobin-Limballe, Stéphanie; Goldberg, Ethan EM; Hagebeuk, Eveline; Hamdan, Fadi F.F.; Hančárová, Miroslava; Hubert, Laurence; Ioos, Christine; Ichikawa, Shoji; Janssens, Sandra; Journel, Hubert; Kaminska, Anna; Keren, Boris; Koopmans, Marije; Lacoste, Caroline; Laššuthová, Petra; Lederer, Damien; Lehalle, Daphné; Marjanovic, Dragan; Métreau, Julia; Michaud, Jacques J.L.; Miller, Kathryn; Minassian, Berge BA; Morales, Joannella; Moutard, Marie-Laure; Munnich, Arnold; Ortiz-Gonzalez, Xilma XR; Pinard, Jean-Marc; Prchalová, Darina; Putoux, Audrey; Quelin, Chloé; Rosen, Alyssa R; Roume, Joelle; Rossignol, Elsa; Simon, Marleen E H; Smol, Thomas; Shur, Natasha; Shelihan, Ivan; Štěrbová, Katalin; Vyhnálková, Emílie; Vilain, Catheline; Soblet, Julie; Smits, Guillaume; Yang, Samuel P; van der Smagt, Jasper JJ; van Hasselt, Peter M; van Kempen, Marjan; Weckhuysen, Sarah; Helbig, Ingo; Villard, Laurent; Héron, Delphine; Koeleman, Bobby B.P.C.; Møller, Rikke RS; Lesca, Gaetan; Helbig, Katherine KL; Nabbout, Rima; Verbeek, Nienke NE; Depienne, Christel |
| Informations sur la publication: | Genetics in medicine, 21, 4, page (837-849) |
| Statut de publication: | Publié, 2019-11-01 |
| Sujet CREF: | Sciences bio-médicales et agricoles |
| Génétique clinique | |
| Génétique moléculaire | |
| Mots-clés: | IQSEC2 |
| X-linked inheritance | |
| epilepsy | |
| intellectual disability | |
| isoforms | |
| Note générale: | SCOPUS: ar.j |
| Langue: | Anglais |
| Identificateurs: | urn:issn:1098-3600 |
| info:doi/10.1038/s41436-018-0268-1 | |
| info:pii/10.1038/s41436-018-0268-1 | |
| info:scp/85053419387 | |
| info:pmid/30206421 |
