Not logged in.png)
Share.png)
SaveBiallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study
Loong, Lucy; Tardivo, Agostina; Knaus, Alexej; Hashim, Mona; Pagnamenta, Alistair T.; Alt, Kerstin; Boehrer-Rabel, Helena; Caro-Llopis, Alfonso; Cole, Trevor; Distelmaier, Felix; Edery, Patrick; Ferreira, Carlos R.; Jezela-Stanek, Aleksandra; Kerr, Bronwyn; Kluger, Gerhard; Krawitz, Peter M.; Kuhn, Marius; Lemke, Johannes R.; Lesca, Gaetan; Lynch, Sally Ann; Martinez, Francisco; Maxton, Caroline; Mierzewska, Hanna; Monfort, Sandra; Nicolai, Joost; Orellana, Carmen; Pal, Deb K.; Ploski, Rafal; Quarrell, Oliver W.; Rosello, Monica; Rydzanicz, Malgorzata; Sabir, Ataf; Smigiel, Robert; Stegmann, Alexander P. A.; Stewart, Helen; Stumpel, Constance; Szczepanik, Elzbieta; Tzschach, Andreas; Wolfe, Lynne; Taylor, Jenny C.; Murakami, Yoshiko; Kinoshita, Taroh; Bayat, Allan; Kini, Usha Share Save PIGN encephalopathy: Characterizing the epileptologyBayat, Allan; Valles-Ibanez, Guillem; Pendziwiat, Manuela; Knaus, Alexej; Alt, Kerstin; Biamino, Elisa; Bley, Annette; Calvert, Sophie; Carney, Patrick; Caro-Llopis, Alfonso; Ceulemans, Berten; Cousin, Janice; Davis, Suzanne; Portes, Vincent; Edery, Patrick; England, Eleina; Ferreira, Carlos; Freeman, Jeremy; Gener, Blanca; Gorce, Magali; Heron, Delphine; Hildebrand, Michael S.; Jezela-Stanek, Aleksandra; Jouk, Pierre-Simon; Keren, Boris; Kloth, Katja; Kluger, Gerhard; Kuhn, Marius; Lemke, Johannes R.; Li, Hong; Martinez, Francisco; Maxton, Caroline; Mefford, Heather C.; Merla, Giuseppe; Mierzewska, Hanna; Muir, Alison; Monfort, Sandra; Nicolai, Joost; Norman, Jennifer; O'Grady, Gina; Oleksy, Barbara; Orellana, Carmen; Orec, Laura Elena; Peinhardt, Charlotte; Pronicka, Ewa; Rosello, Monica; Santos-Simarro, Fernando; Schwaibold, Eva Maria Christina; Stegmann, Alexander P. A.; Stumpel, Constance T.; Szczepanik, Elzbieta; Terczynska, Iwona; Thevenon, Julien; Tzschach, Andreas; Van Bogaert, Patrick; Vittorini, Roberta; Walsh, Sonja; Weckhuysen, Sarah; Weissman, Barbara; Wolfe, Lynne; Reymond, Alexandre; De Nittis, Pasquelena; Poduri, Annapurna; Olson, Heather; Striano, Pasquale; Lesca, Gaetan; Scheffer, Ingrid E.; Moller, Rikke S.; Sadleir, Lynette G. Share Save Intrathecal Infusion of Autologous Adipose-Derived Regenerative Cells in Autoimmune Refractory Epilepsy: Evaluation of Safety and EfficacySzczepanik, Elzbieta; Mierzewska, Hanna; Antczak-Marach, Dorota; Figiel-Dabrowska, Anna; Terczynska, Iwona; Tryfon, Jolanta; Krzesniak, Natalia; Noszczyk, Bartlomiej Henryk; Sawicka, Ewa; Domanska-Janik, Krystyna; Sarnowska, Anna Share Save Diagnostic implications of genetic copy number variation in epilepsy plusCoppola, Antonietta; Cellini, Elena; Stamberger, Hannah; Saarentaus, Elmo; Cetica, Valentina; Lal, Dennis; Djemie, Tania; Bartnik-Glaska, Magdalena; Ceulemans, Berten; Cross, J. Helen; Deconinck, Tine; De Masi, Salvatore; Dorn, Thomas; Guerrini, Renzo; Hoffman-Zacharska, Dorotha; Kooy, Frank; Lagae, Lieven; Lench, Nicholas; Lemke, Johannes R.; Lucenteforte, Ersilia; Madia, Francesca; Mefford, Heather C.; Morrogh, Deborah; Nuernberg, Peter; Palotie, Aarno; Schoonjans, An-Sofie; Striano, Pasquale; Szczepanik, Elzbieta; Tostevin, Anna; Vermeesch, Joris R.; Van Esch, Hilde; Van Paesschen, Wim; Waters, Jonathan J.; Weckhuysen, Sarah; Zara, Federico; Jonghe, Peter De; Sisodiya, Sanjay M.; Marini, Carla; Lehesjioki, Anna-Elina; Craiu, Dana; Talvik, Tiina; Caglayan, Hande; Serratosa, Jose; Sterbova, Katalin; Moller, Rikke S.; Hjalgrim, Helle; Lerche, Holger; Weber, Yvonne; Helbig, Ingo; von Spiczak, Sarah; Barba, Carmen; Bogaerts, Anneleen; Boni, Antonella; Galizia, Elisabeth Caruana; Chiari, Sara; Clementella, Claudia; Di Gacomo, Gianpiero; Ferrari, Annarita; Guarducci, Silvia; Giglio, Sabrina; Holmgren, Philip; Leu, Costin; Mari, Francesco; Melani, Federico; Novara, Francesca; Pantaleo, Marilena; Peeters, Elke; Pisano, Tiziana; Rosati, Anna; Sander, Josemir; Schoeler, Natasha; Stankiewicz, Pawel; Striano, Salvatore; Suls, Arvid; Traverso, Monica; Vandeweyer, Geert; Van Dijck, Anke; Zuffardi, Orsetta Share Save Comprehensive genomic analysis of patients with disorders of cerebral cortical developmentWiszniewski, Wojciech; Gawlinski, Pawel; Gambin, Tomasz; Bekiesinska-Figatowska, Monika; Obersztyn, Ewa; Antczak-Marach, Dorota; Akdemir, Zeynep Hande Coban; Harel, Tamar; Karaca, Ender; Jurek, Marta; Sobecka, Katarzyna; Nowakowska, Beata; Kruk, Malgorzata; Terczynska, Iwona; Goszczanska-Ciuchta, Alicja; Rudzka-Dybala, Mariola; Jamroz, Ewa; Pyrkosz, Antoni; Jakubiuk-Tomaszuk, Anna; Iwanowski, Piotr; Gieruszczak-Bialek, Dorota; Piotrowicz, Malgorzata; Sasiadek, Maria; Kochanowska, Iwona; Gurda, Barbara; Steinborn, Barbara; Dawidziuk, Mateusz; Castaneda, Jennifer; Wlasienko, Pawel; Bezniakow, Natalia; Jhangiani, Shalini N.; Hoffman-Zacharska, Dorota; Bal, Jerzy; Szczepanik, Elzbieta; Boerwinkle, Eric; Gibbs, Richard A.; Lupski, James R. Share Save Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsyMignot, Cyril; von Stuelpnagel, Celina; Nava, Caroline; Ville, Dorothee; Sanlaville, Damien; Lesca, Gaetan; Rastetter, Agnes; Gachet, Benoit; Marie, Yannick; Korenke, G. Christoph; Borggraefe, Ingo; Hoffmann-Zacharska, Dorota; Szczepanik, Elzbieta; Rudzka-Dybala, Mariola; Yis, Uluc; Caglayan, Hande; Isapof, Arnaud; Marey, Isabelle; Panagiotakaki, Eleni; Korff, Christian; Rossier, Eva; Riess, Angelika; Beck-Woedl, Stefanie; Rauch, Anita; Zweier, Christiane; Hoyer, Juliane; Reis, Andre; Mironov, Mikhail; Bobylova, Maria; Mukhin, Konstantin; Hernandez-Hernandez, Laura; Maher, Bridget; Sisodiya, Sanjay; Kuhn, Marius; Glaeser, Dieter; Wechuysen, Sarah; Myers, Candace T.; Mefford, Heather C.; Hoertnagel, Konstanze; Biskup, Saskia; Lemke, Johannes R.; Heron, Delphine; Kluger, Gerhard; Depienne, Christel Share Save Share Save De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet SyndromeSuls, Arvid; Jaehn, Johanna A.; Kecskes, Angela; Weber, Yvonne; Weckhuysen, Sarah; Craiu, Dana C.; Siekierska, Aleksandra; Djemie, Tania; Afrikanova, Tatiana; Gormley, Padhraig; von Spiczak, Sarah; Kluger, Gerhard; Iliescu, Catrinel M.; Talvik, Tiina; Talvik, Inga; Meral, Cihan; Caglayan, Hande S.; Giraldez, Beatriz G.; Serratosa, Jose; Lemke, Johannes R.; Hoffman-Zacharska, Dorota; Szczepanik, Elzbieta; Barisic, Nina; Komarek, Vladimir; Hjalgrim, Helle; Moller, Rikke S.; Linnankivi, Tarja; Dimova, Petia; Striano, Pasquale; Zara, Federico; Marini, Carla; Guerrini, Renzo; Depienne, Christel; Baulac, Stephanie; Kuhlenbaeumer, Gregor; Crawford, Alexander D.; Lehesjoki, Anna-Elina; de Witte, Peter A. M.; Palotie, Aarno; Lerche, Holger; Esguerra, Camila V.; De Jonghe, Peter; Helbig, Ingo Share Save Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral ProblemsRamocki, Melissa B.; Bartnik, Magdalena; Szafranski, Przemyslaw; Kolodziejska, Katarzyna E.; Xia, Zhilian; Bravo, Jaclyn; Miller, G. Steve; Rodriguez, Diana L.; Williams, Charles A.; Bader, Patricia I.; Szczepanik, Elzbieta; Mazurczak, Tomasz; Antczak-Marach, Dorota; Coldwell, James G.; Akman, Cigdem I.; McAlmon, Karen; Cohen, Melinda P.; McGrath, James; Roeder, Elizabeth; Mueller, Jennifer; Kang, Sung-Hae L.; Bacino, Carlos A.; Patel, Ankita; Bocian, Ewa; Shaw, Chad A.; Cheung, Sau Wai; Mazurczak, Tadeusz; Stankiewicz, Pawel Share Save Share Save Share Save 
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}