Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort von Symonds, Joseph D, Zuberi, Sameer M, Stewart, Kirsty, McLellan, Ailsa, O'Regan, Mary, MacLeod, Stewart, Jollands, Alice, Joss, Shelagh, Kirkpatrick, Martin, Brunklaus, Andreas, Pilz, Daniela T, Shetty, Jay, Dorris, Liam, Abu-Arafeh, Ishaq, Andrew, Jamie, Brink, Philip, Callaghan, Mary, Cruden, Jamie, Diver, Louise A, Findlay, Christine, Gardiner, Sarah, Grattan, Rosemary, Lang, Bethan, MacDonnell, Jane, McKnight, Jean, Morrison, Calum A, Nairn, Lesley, Slean, Meghan M, Stephen, Elma, Webb, Alan, Vincent, Angela, Wilson, Margaret

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Malfunction of Nuclease ERCC1-XPF Results in Diverse Clinical Manifestations and Causes Cockayne Syndrome, Xeroderma Pigmentosum, and Fanconi Anemia von Kashiyama, Kazuya, Nakazawa, Yuka, Pilz, Daniela T., Guo, Chaowan, Shimada, Mayuko, Sasaki, Kensaku, Fawcett, Heather, Wing, Jonathan F., Lewin, Susan O., Carr, Lucinda, Li, Tao-Sheng, Yoshiura, Koh-ichiro, Utani, Atsushi, Hirano, Akiyoshi, Yamashita, Shunichi, Greenblatt, Danielle, Nardo, Tiziana, Stefanini, Miria, McGibbon, David, Sarkany, Robert, Fassihi, Hiva, Takahashi, Yoshito, Nagayama, Yuji, Mitsutake, Norisato, Lehmann, Alan R., Ogi, Tomoo

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Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants von Symonds, Joseph D., Elliott, Katherine S., Shetty, Jay, Armstrong, Martin, Brunklaus, Andreas, Cutcutache, Ioana, Diver, Louise A., Dorris, Liam, Gardiner, Sarah, Jollands, Alice, Joss, Shelagh, Kirkpatrick, Martin, McLellan, Ailsa, MacLeod, Stewart, O'Regan, Mary, Page, Matthew, Pilley, Elizabeth, Pilz, Daniela T., Stephen, Elma, Stewart, Kirsty, Ashrafian, Houman, Knight, Julian C., Zuberi, Sameer M.

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De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy von Cushion, Thomas D., Paciorkowski, Alex R., Pilz, Daniela T., Mullins, Jonathan G.L., Seltzer, Laurie E., Marion, Robert W., Tuttle, Emily, Ghoneim, Dalia, Christian, Susan L., Chung, Seo-Kyung, Rees, Mark I., Dobyns, William B.

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Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability von Tatton-Brown, Katrina, Seal, Sheila, Ruark, Elise, Harmer, Jenny, Ramsay, Emma, del Vecchio Duarte, Silvana, Zachariou, Anna, Hanks, Sandra, O'Brien, Eleanor, Aksglaede, Lise, Baralle, Diana, Dabir, Tabib, Gener, Blanca, Goudie, David, Homfray, Tessa, Kumar, Ajith, Pilz, Daniela T, Selicorni, Angelo, Temple, I Karen, Van Maldergem, Lionel, Yachelevich, Naomi, van Montfort, Robert, Rahman, Nazneen

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Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome) von Mansour, Sahar, Ostergaard, Pia, Simpson, Michael A, Connell, Fiona C, Steward, Colin G, Brice, Glen, Woollard, Wesley J, Dafou, Dimitra, Kilo, Tatjana, Smithson, Sarah, Lunt, Peter, Murday, Victoria A, Hodgson, Shirley, Keenan, Russell, Pilz, Daniela T, Martinez-Corral, Ines, Makinen, Taija, Mortimer, Peter S, Jeffery, Steve, Trembath, Richard C

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Overlapping cortical malformations and mutations in TUBB2B and TUBA1A von CUSHION, Thomas D, DOBYNS, William B, UYANIK, Gokhan, RANKIN, Julia, REES, Mark I, PILZ, Daniela T, MULLINS, Jonathan G. L, STOODLEY, Neil, CHUNG, Seo-Kyung, FRY, Andrew E, HEHR, Ute, GUNNY, Roxana, AYLSWORTH, Arthur S, PRABHAKAR, Prab

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De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism von Zawerton, Ash, Yao, Baojin, Yeager, J. Paige, Pippucci, Tommaso, Haseeb, Abdul, Smith, Joshua D., Wischmann, Lisa, Kühl, Susanne J., Dean, John C.S., Pilz, Daniela T., Holder, Susan E., McNeill, Alisdair, Graziano, Claudio, Lefebvre, Véronique

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A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration von O’Neill, Adam C., Kyrousi, Christina, Klaus, Johannes, Leventer, Richard J., Kirk, Edwin P., Fry, Andrew, Pilz, Daniela T., Morgan, Tim, Jenkins, Zandra A., Drukker, Micha, Berkovic, Samuel F., Scheffer, Ingrid E., Guerrini, Renzo, Markie, David M., Götz, Magdalena, Cappello, Silvia, Robertson, Stephen P.

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International consensus recommendations on the diagnostic work-up for malformations of cortical development von Oegema, Renske, Barakat, Tahsin Stefan, Wilke, Martina, Stouffs, Katrien, Amrom, Dina, Aronica, Eleonora, Bahi-Buisson, Nadia, Conti, Valerio, Fry, Andrew E., Geis, Tobias, Andres, David Gomez, Parrini, Elena, Pogledic, Ivana, Said, Edith, Soler, Doriette, Valor, Luis M., Zaki, Maha S., Mirzaa, Ghayda, Dobyns, William B., Reiner, Orly, Guerrini, Renzo, Pilz, Daniela T., Hehr, Ute, Leventer, Richard J., Jansen, Anna C., Mancini, Grazia M. S., Di Donato, Nataliya

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Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients von Leventer, Richard J., Jansen, Anna, Pilz, Daniela T., Stoodley, Neil, Marini, Carla, Dubeau, Francois, Malone, Jodie, Mitchell, L. Anne, Mandelstam, Simone, Scheffer, Ingrid E., Berkovic, Samuel F., Andermann, Frederick, Andermann, Eva, Guerrini, Renzo, Dobyns, William B.

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The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care von Wilson, Brian T., Stark, Zornitza, Sutton, Ruth E., Danda, Sumita, Ekbote, Alka V., Elsayed, Solaf M., Gibson, Louise, Goodship, Judith A., Jackson, Andrew P., Te Keng, Wee ik, King, Mary D., McCann, Emma, Motojima, Toshino, Murray, Jennifer E., Omata, Taku, Pilz, Daniela, Pope, Kate, Sugita, Katsuo, White, Susan M., Wilson, Ian J.

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EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy von Byrne, Susan, Jansen, Lara, U-King-Im, Jean-Marie, Siddiqui, Ata, Lidov, Hart G W, Bodi, Istvan, Smith, Luke, Mein, Rachael, Cullup, Thomas, Dionisi-Vici, Carlo, Al-Gazali, Lihadh, Al-Owain, Mohammed, Bruwer, Zandre, Al Thihli, Khalid, El-Garhy, Rana, Flanigan, Kevin M, Manickam, Kandamurugu, Zmuda, Erik, Banks, Wesley, Gershoni-Baruch, Ruth, Mandel, Hanna, Dagan, Efrat, Raas-Rothschild, Annick, Barash, Hila, Filloux, Francis, Creel, Donnell, Harris, Michael, Hamosh, Ada, Kölker, Stefan, Ebrahimi-Fakhari, Darius, Hoffmann, Georg F, Manchester, David, Boyer, Philip J, Manzur, Adnan Y, Lourenco, Charles Marques, Pilz, Daniela T, Kamath, Arveen, Prabhakar, Prab, Rao, Vamshi K, Rogers, R Curtis, Ryan, Monique M, Brown, Natasha J, McLean, Catriona A, Said, Edith, Schara, Ulrike, Stein, Anja, Sewry, Caroline, Travan, Laura, Wijburg, Frits A, Zenker, Martin, Mohammed, Shehla, Fanto, Manolis, Gautel, Mathias, Jungbluth, Heinz

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TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins von Kumar, Ravinesh A., Pilz, Daniela T., Babatz, Timothy D., Cushion, Thomas D., Harvey, Kirsten, Topf, Maya, Yates, Laura, Robb, Stephanie, Uyanik, Gökhan, Mancini, Gracia M.S., Rees, Mark I., Harvey, Robert J., Dobyns, William B.

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Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals von Kharbanda, Mira, Pilz, Daniela T, Tomkins, Susan, Chandler, Kate, Saggar, Anand, Fryer, Alan, McKay, Victoria, Louro, Pedro, Smith, Jill Clayton, Burn, John, Kini, Usha, De Burca, Anna, FitzPatrick, David R, Kinning, Esther

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Mutation of the Variant α-Tubulin TUBA8 Results in Polymicrogyria with Optic Nerve Hypoplasia von Abdollahi, Mohammad R., Morrison, Ewan, Sirey, Tamara, Molnar, Zoltan, Hayward, Bruce E., Carr, Ian M., Springell, Kelly, Woods, C. Geoff, Ahmed, Mushtaq, Hattingh, Louise, Corry, Peter, Pilz, Daniela T., Stoodley, Neil, Crow, Yanick, Taylor, Graham R., Bonthron, David T., Sheridan, Eamonn

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Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness von Davidson, Alice E, Cheong, Sek-Shir, Hysi, Pirro G, Venturini, Cristina, Plagnol, Vincent, Ruddle, Jonathan B, Ali, Hala, Carnt, Nicole, Gardner, Jessica C, Hassan, Hala, Gade, Else, Kearns, Lisa, Jelsig, Anne Marie, Restori, Marie, Webb, Tom R, Laws, David, Cosgrove, Michael, Hertz, Jens M, Russell-Eggitt, Isabelle, Pilz, Daniela T, Hammond, Christopher J, Tuft, Stephen J, Hardcastle, Alison J

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NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly von Schanze, Ina, Bunt, Jens, Lim, Jonathan W.C., Schanze, Denny, Dean, Ryan J., Alders, Marielle, Blanchet, Patricia, Attié-Bitach, Tania, Berland, Siren, Boogert, Steven, Boppudi, Sangamitra, Bridges, Caitlin J., Cho, Megan T., Dobyns, William B., Donnai, Dian, Douglas, Jessica, Earl, Dawn L., Edwards, Timothy J., Faivre, Laurence, Fregeau, Brieana, Genevieve, David, Gérard, Marion, Gatinois, Vincent, Holder-Espinasse, Muriel, Huth, Samuel F., Izumi, Kosuke, Kerr, Bronwyn, Lacaze, Elodie, Lakeman, Phillis, Mahida, Sonal, Mirzaa, Ghayda M., Morgan, Sian M., Nowak, Catherine, Peeters, Hilde, Petit, Florence, Pilz, Daniela T., Puechberty, Jacques, Reinstein, Eyal, Rivière, Jean-Baptiste, Santani, Avni B., Schneider, Anouck, Sherr, Elliott H., Smith-Hicks, Constance, Wieland, Ilse, Zackai, Elaine, Zhao, Xiaonan, Gronostajski, Richard M., Zenker, Martin, Richards, Linda J.

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Phenotypic spectrum associated with CASK loss-of-function mutations von Moog, Ute, Kutsche, Kerstin, Kortüm, Fanny, Chilian, Bettina, Bierhals, Tatjana, Apeshiotis, Neophytos, Balg, Stefanie, Chassaing, Nicolas, Coubes, Christine, Das, Soma, Engels, Hartmut, Van Esch, Hilde, Grasshoff, Ute, Heise, Marisol, Isidor, Bertrand, Jarvis, Joanna, Koehler, Udo, Martin, Thomas, Oehl-Jaschkowitz, Barbara, Ortibus, Els, Pilz, Daniela T, Prabhakar, Prab, Rappold, Gudrun, Rau, Isabella, Rettenberger, Günther, Schlüter, Gregor, Scott, Richard H, Shoukier, Moonef, Wohlleber, Eva, Zirn, Birgit, Dobyns, William B, Uyanik, Gökhan

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De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism von Zawerton, Ash, Yao, Baojin, Yeager, J. Paige, Pippucci, Tommaso, Haseeb, Abdul, Smith, Joshua D., Wischmann, Lisa, Kühl, Susanne J., Dean, John C.S., Pilz, Daniela T., Holder, Susan E., McNeill, Alisdair, Graziano, Claudio, Lefebvre, Véronique

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