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by Gorman, Kathleen M and Meyer, Esther and Grozeva, Detelina and Spinelli, Egidio and McTague, Amy and Sanchis-Juan, Alba and Carss, Keren and Carss, Keren J and Bryant, Emily and Reich, Adi and Schneider, Amy L and Pressler, Ronit M and Simpson, Michael A and Debelle, Geoff D and Wassmer, Evangeline and Morton, Jenny and Sieciechowicz, Diana and Jan-Kamsteeg, Eric and Paciorkowski, Alex R and King, Daniel and King, Mary D and Cross, J. Helen and Cross, Gareth and Poduri, Annapurna and Mefford, Heather C and Scheffer, Ingrid E and Haack, Tobias B and McCullagh, Gary and McRae, Jeremy F and Clayton, Stephen and Fitzgerald, Tomas W and Kaplanis, Joanna and Prigmore, Elena and Rajan, Diana and Sifrim, Alejandro and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Ambridge, Kirsty and Barrett, Daniel M and Barrett, Jeffrey C and Bayzetinova, Tanya and Jones, Philip and Jones, Elizabeth and Jones, Wendy D and Krishnappa, Netravathi and Mason, Laura E and Singh, Tarjinder and Tivey, Adrian R and Ahmed, Munaza and Anjum, Uruj and Archer, Hayley and Armstrong, Ruth and Awada, Jana and Balasubramanian, Meena and Banka, Siddharth and Baralle, Diana and Barnicoat, Angela and Batstone, Paul and Baty, David and Bennett, Chris and Bennett, David and Berg, Jonathan and Bernhard, Birgitta and Bevan, A. Paul and Bitner-Glindzicz, Maria and Blair, Edward and Blyth, Moira and Bohanna, David and Bourdon, Louise and Bourn, David and Bradley, John R and Bradley, Lisa and Brady, Angela and Brady, Angie and Brent, Simon and Brewer, Carole and Brunstrom, Kate and Bunyan, David J and Burn, John and Canham, Natalie and Castle, Bruce and Chandler, Kate and Chatzimichali, Elena and Cilliers, Deirdre and Clarke, Angus and Clasper, Susan and Clayton-Smith, Jill and Clowes, Virginia and Coates, Guy and Coates, Andrea and Cole, Trevor and Colgiu, Irina and Collins, Amanda and Collins, Peter and Collinson, Morag N and Connell, Fiona and Cooper, Nichola and Cooper, Nicola and Cox, Tony and ... and NIHR BioResource and Deciphering Dev Disorders Study and UK10K Consortium and Deciphering Developmental Disorders Study
The American Journal of Human Genetics, ISSN 0002-9297, 05/2019, Volume 104, Issue 5, pp. 948 - 956
The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon.... 
epilepsy | CACNA1B | epilepsy-dyskinesia | developmental and epileptic encephalopathy (DEE) | ENCEPHALOPATHIES | CLASSIFICATION | DE-NOVO MUTATIONS | CALCIUM-CHANNELS | GENETICS & HEREDITY | MYOCLONUS-DYSTONIA | Allelomorphism | Gene mutations | Epilepsy | Development and progression | Genetic aspects | Research | Risk factors | Report
Journal Article
Journal Article
by Helbig, Ingo and Helbig, Katherine L and Lopez-Hernandez, Tania and Shor, Oded and Galer, Peter and Ganesan, Shiva and Pendziwiat, Manuela and Rademacher, Annika and Ellis, Colin A and Hümpfer, Nadja and Schwarz, Niklas and Seiffert, Simone and Peeden, Joseph and Shen, Joseph and Štěrbová, Katalin and Hammer, Trine Bjørg and Møller, Rikke S and Shinde, Deepali N and Tang, Sha and Smith, Lacey and Poduri, Annapurna and Krause, Roland and Benninger, Felix and Haucke, Volker and Weber, Yvonne G and Balling, Rudi and Barisic, Nina and Baulac, Stéphanie and Caglayan, Hande and Craiu, Dana and De Jonghe, Peter and Depienne, Christel and Guerrini, Renzo and Hjalgrim, Helle and Hoffman-Zacharska, Dorota and Jähn, Johanna and Klein, Karl Martin and Koeleman, Bobby P.C and Komarek, Vladimir and Leguern, Eric and Lehesjoki, Anna-Elina and Lemke, Johannes R and Lerche, Holger and Linnankivi, Tarja and Marini, Carla and May, Patrick and Muhle, Hiltrud and Pal, Deb K and Palotie, Aarno and Rosenow, Felix and Schubert-Bast, Susanne and Selmer, Kaja and Serratosa, Jose M and Sisodiya, Sanjay and Stephani, Ulrich and Striano, Pasquale and Suls, Arvid and Talvik, Tiina and von Spiczak, Sarah and Weckhuysen, Sarah and Zara, Federico and Avillach, Paul and Bartels, Anna and Biswas, Sawona and Bourgeois, Florence and Devkota, Batsal and Glauser, Tracy and Hallinan, Barbara and Heath, Allison and Hirschhorn, Joel and Kilbourn, Judson and Kong, Sek Won and Krantz, Ian and Lee, In-Hee and Mandl, Kenneth D and Marsh, Eric and Sund, Kristen and Taylor, Deanne and White, Peter and GRIN Consortium and EuroEPINOMICS-RES Consortium
The American Journal of Human Genetics, ISSN 0002-9297, 06/2019, Volume 104, Issue 6, pp. 1060 - 1072
The developmental and epileptic encephalopathies (DEEs) are heterogeneous disorders with a strong genetic contribution, but the underlying genetic etiology... 
computational phenotypes | synaptic transmission | developmental and epileptic encephalopathy | neurodevelopmental disorders | clathrin-mediated endocytosis | Human Phenotype Ontology | Medicine, Experimental | Medical research | Usage | Endocytosis | Care and treatment | Encephalopathy
Journal Article
Genetics in Medicine, ISSN 1098-3600, 04/2019, Volume 21, Issue 4, pp. 1008 - 1014
Journal Article
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 09/2019, Volume 7, Issue 9, pp. e926 - n/a
Journal Article