Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies by Masnada, Silvia, Hedrich, Ulrike B S, Gardella, Elena, Schubert, Julian, Kaiwar, Charu, Klee, Eric W, Lanpher, Brendan C, Gavrilova, Ralitza H, Synofzik, Matthis, Bast, Thomas, Gorman, Kathleen, King, Mary D, Allen, Nicholas M, Conroy, Judith, Ben Zeev, Bruria, Tzadok, Michal, Korff, Christian, Dubois, Fanny, Ramsey, Keri, Narayanan, Vinodh, Serratosa, Jose M, Giraldez, Beatriz G, Helbig, Ingo, Marsh, Eric, O'Brien, Margaret, Bergqvist, Christina A, Binelli, Adrian, Porter, Brenda, Zaeyen, Eduardo, Horovitz, Dafne D, Wolff, Markus, Marjanovic, Dragan, Caglayan, Hande S, Arslan, Mutluay, Pena, Sergio D J, Sisodiya, Sanjay M, Balestrini, Simona, Syrbe, Steffen, Veggiotti, Pierangelo, Lemke, Johannes R, Møller, Rikke S, Lerche, Holger, Rubboli, Guido

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De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome by Suls, Arvid, Jaehn, Johanna A., Kecskés, Angela, Weber, Yvonne, Weckhuysen, Sarah, Craiu, Dana C., Siekierska, Aleksandra, Djémié, 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, José, Lemke, Johannes R., Hoffman-Zacharska, Dorota, Szczepanik, Elzbieta, Barisic, Nina, Komarek, Vladimir, Hjalgrim, Helle, Møller, Rikke S., Linnankivi, Tarja, Dimova, Petia, Striano, Pasquale, Zara, Federico, Marini, Carla, Guerrini, Renzo, Depienne, Christel, Baulac, Stéphanie, Kuhlenbäumer, Gregor, Crawford, Alexander D., Lehesjoki, Anna-Elina, de Witte, Peter A.M., Palotie, Aarno, Lerche, Holger, Esguerra, Camila V., De Jonghe, Peter, Helbig, Ingo, Hendrickx, Rik, Holmgren, Philip, Stephani, Ulrich, Muhle, Hiltrud, Pendiziwiat, Manuela, Appenzeller, Silke, Selmer, Kaja, Brilstra, Eva, Koeleman, Bobby, Rosenow, Felix, Leguern, Eric, Sterbova, Katalin, Magdalena, Budisteanu, Rodica, Gherghiceanu, Arsene, Oana Tarta, Diana, Barca, Guerrero-Lopez, Rosa, Ortega, Laura, Todorova, Albena P., Kirov, Andrey V., Robbiano, Angela, Arslan, Mutluay, Yiş, Uluç, Ivanović, Vanja

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Exome data of developmental and epileptic encephalopathy patients reveals de novo and inherited pathologic variants in epilepsy-associated genes by Çapan, Özlem Yalçın, Yapıcı, Zuhal, Özbil, Mehmet, Çağlayan, Hande S.

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Developmental and epileptic encephalopathy 82 (DEE82) with novel compound heterozygous mutations of GOT2 gene by Çapan, Özlem Yalçın, Türkdoğan, Dilşad, Atalay, Sertaç, Çağlayan, Hande S.

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De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies by Manivannan, Sathiya N, Roovers, Jolien, Smal, Noor, Myers, Candace T, Turkdogan, Dilsad, Roelens, Filip, Kanca, Oguz, Chung, Hyung-Lok, Scholz, Tasja, Hermann, Katharina, Bierhals, Tatjana, Caglayan, Hande S, Stamberger, Hannah, Mefford, Heather, de Jonghe, Peter, Yamamoto, Shinya, Weckhuysen, Sarah, Bellen, Hugo J

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Functional characterisation of the type 1 von Willebrand disease candidate VWF gene variants: p.M771I, p.L881R and p.P1413L by Berber, Ergul, Ozbil, Mehmet, Brown, Christine, Baslar, Zafer, Caglayan, S. Hande, Lillicrap, David

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Lafora Disease: Molecular Etiology by S. Hande ÇAĞLAYAN

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SCN1A GENE SEQUENCING IN 46 TURKISH EPILEPSY PATIENTS DISCLOSED 12 NOVEL MUTATIONS by Usluer, Sunay, Salar, Seda, Arslan, Mutluay, Yiş, Uluç, Kara, Bülent, Tektürk, Pınar, Baykan, Betül, Meral, Cihan, Türkdoğan, Dilşad, Bebek, Nerses, Çapan, Özlem Yalçın, Eken, Aslı Gündoğdu, Çağlayan, S. Hande

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Possible role of SCN4A skeletal muscle mutation in apnea during seizure by Türkdoğan, Dilşad, Matthews, Emma, Usluer, Sunay, Gündoğdu, Aslı, Uluç, Kayıhan, Mannikko, Roope, Hanna, Michael G., Sisodiya, Sanjay M., Çağlayan, Hande S.

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Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE) by Usluer, Sunay, Kayserili, Melek Aslı, Eken, Aslı Gündoğdu, Yiş, Uluc, Leu, Costin, Altmüller, Janine, Thiele, Holger, Nuernberg, Peter, Sander, Thomas, Çağlayan, S. Hande

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Four novel and two recurrent NHLRC1 ( EPM2B ) and EPM2A gene mutations leading to Lafora disease in six Turkish families by Salar, Seda, Yeni, Naz, Gündüz, Ayşegül, Güler, Ayşe, Gökçay, Ahmet, Velioğlu, Sibel, Gündoğdu, Aslı, Hande Çağlayan, S

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A Common VWF Exon 28 Haplotype in the Turkish Population by Berber, Ergul, Pehlevan, Funda, Akin, Mehmet, Capan, Ozlem Yalcin, Kavakli, Kaan, Çaglayan, S. Hande

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Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic atonic seizures by Carvill, Gemma L., McMahon, Jacinta M., Schneider, Amy, Zemel, Matthew, Myers, Candace T., Saykally, Julia, Nguyen, John, Robbiano, Angela, Zara, Federico, Specchio, Nicola, Mecarelli, Oriano, Smith, Robert L., Leventer, Richard J., Møller, Rikke S., Nikanorova, Marina, Dimova, Petia, Jordanova, Albena, Petrou, Steven, Helbig, Ingo, Striano, Pasquale, Weckhuysen, Sarah, Berkovic, Samuel F., Scheffer, Ingrid E., Mefford, Heather C.

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Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies by Carvill, Gemma L., Engel, Krysta L., Ramamurthy, Aishwarya, Cochran, J. Nicholas, Roovers, Jolien, Stamberger, Hannah, Lim, Nicholas, Schneider, Amy L., Hollingsworth, Georgie, Holder, Dylan H., Regan, Brigid M., Lawlor, James, Lagae, Lieven, Ceulemans, Berten, Bebin, E. Martina, Nguyen, John, Striano, Pasquale, Zara, Federico, Helbig, Ingo, Møller, Rikke S., von Spiczak, Sarah, Muhle, Hiltrud, Caglayan, Hande, Sterbova, Katalin, Craiu, Dana, Hoffman, Dorota, Lehesjoki, Anna-Elina, Selmer, Kaja, Depienne, Christel, Lemke, Johannes, Marini, Carla, Guerrini, Renzo, Neubauer, Bernd, Talvik, Tiina, Leguern, Eric, de Jonghe, Peter, Weckhuysen, Sarah, Barsh, Gregory S., Weckhuysen, Sarah, Meisler, Miriam, Berkovic, Samuel F., De Jonghe, Peter, Scheffer, Ingrid E., Myers, Richard M., Cooper, Gregory M., Mefford, Heather C.

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Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia by Hardies, Katia, de Kovel, Carolien G F, Weckhuysen, Sarah, Asselbergh, Bob, Geuens, Thomas, Deconinck, Tine, Azmi, Abdelkrim, May, Patrick, Brilstra, Eva, Becker, Felicitas, Barisic, Nina, Craiu, Dana, Braun, Kees P J, Lal, Dennis, Thiele, Holger, Schubert, Julian, Weber, Yvonne, van 't Slot, Ruben, Nürnberg, Peter, Balling, Rudi, Timmerman, Vincent, Lerche, Holger, Maudsley, Stuart, Helbig, Ingo, Suls, Arvid, Koeleman, Bobby P C, De Jonghe, Peter

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Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures by Tang, Shan, Addis, Laura, Smith, Anna, Topp, Simon D., Pendziwiat, Manuela, Mei, Davide, Parker, Alasdair, Agrawal, Shakti, Hughes, Elaine, Lascelles, Karine, Williams, Ruth E., Fallon, Penny, Robinson, Robert, Cross, Helen J., Hedderly, Tammy, Eltze, Christin, Kerr, Tim, Desurkar, Archana, Hussain, Nahin, Kinali, Maria, Bagnasco, Irene, Vassallo, Grace, Whitehouse, William, Goyal, Sushma, Absoud, Michael, Møller, Rikke S., Helbig, Ingo, Weber, Yvonne G., Marini, Carla, Guerrini, Renzo, Simpson, Michael A., Pal, Deb K., Craiu, Dana, Davila, Carol, Obregia, Alexandru, De Jonghe, Peter, Lehesjoki, Anna‐Elina, Muhle, Hiltrud, Neubauer, Bernd, Selmer, Kaja, Stephani, Ulrich, Sterbova, Katalin, Striano, Pasquale, Talvik, Tiina, von Spiczak, Sarah, Weckhuysen, Sarah, Caglayan, Hande, Hoffman‐Zacharska, Dorota

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Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish by Siekierska, Aleksandra, Stamberger, Hannah, Deconinck, Tine, Oprescu, Stephanie N, Partoens, Michèle, Zhang, Yifan, Sourbron, Jo, Adriaenssens, Elias, Mullen, Patrick, Wiencek, Patrick, Hardies, Katia, Lee, Jeong-Soo, Giong, Hoi-Khoanh, Distelmaier, Felix, Elpeleg, Orly, Helbig, Katherine L, Hersh, Joseph, Isikay, Sedat, Jordan, Elizabeth, Karaca, Ender, Kecskes, Angela, Lupski, James R, Kovacs-Nagy, Reka, May, Patrick, Narayanan, Vinodh, Pendziwiat, Manuela, Ramsey, Keri, Rangasamy, Sampathkumar, Shinde, Deepali N, Spiegel, Ronen, Timmerman, Vincent, von Spiczak, Sarah, Helbig, Ingo, Weckhuysen, Sarah, Francklyn, Christopher, Antonellis, Anthony, de Witte, Peter, De Jonghe, Peter

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Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy by Chatron, Nicolas, Becker, Felicitas, Morsy, Heba, Schmidts, Miriam, Hardies, Katia, Tuysuz, Beyhan, Roselli, Sandra, Najafi, Maryam, Alkaya, Dilek Uludag, Ashrafzadeh, Farah, Nabil, Amira, Omar, Tarek, Maroofian, Reza, Karimiani, Ehsan Ghayoor, Hussien, Haytham, Kok, Fernando, Ramos, Luiza, Gunes, Nilay, Bilguvar, Kaya, Labalme, Audrey, Alix, Eudeline, Sanlaville, Damien, de Bellescize, Julitta, Poulat, Anne-Lise, Moslemi, Ali-Reza, Lerche, Holger, May, Patrick, Lesca, Gaetan, Weckhuysen, Sarah, Tajsharghi, Homa

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Diagnostic implications of genetic copy number variation in epilepsy plus by Coppola, Antonietta, Cellini, Elena, Stamberger, Hannah, Saarentaus, Elmo, Cetica, Valentina, Lal, Dennis, Djémié, Tania, Bartnik‐Glaska, Magdalena, Ceulemans, Berten, Helen Cross, J., Deconinck, Tine, Masi, Salvatore De, 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, De Jonghe, Peter, Sisodiya, Sanjay M., Marini, Carla, Lehesjioki, Anna‐Elina, Craiu, Dana, Talvik, Tiina, Caglayan, Hande, Serratosa, Jose, Sterbova, Katalin, Møller, Rikke S., Hjalgrim, Helle, Lerche, Holger, Weber, Yvonne, Helbig, Ingo, Spiczak, Sarah, Barba, Carmen, Bogaerts, Anneleen, Boni, Antonella, Galizia, Elisabeth Caruana, Chiari, Sara, Gacomo, Gianpiero, Ferrari, Annarita, Guarducci, Silvia, Giglio, Sabrina, Holmgren, Philip, Leu, Costin, 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, Dijck, Anke, Zuffardi, Orsetta

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A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy by Helbig, Ingo, Lopez-Hernandez, Tania, Shor, Oded, Galer, Peter, Ganesan, Shiva, Pendziwiat, Manuela, Rademacher, Annika, Ellis, Colin A., Hümpfer, Nadja, Schwarz, Niklas, Seiffert, Simone, Peeden, Joseph, Shen, Joseph, Štěrbová, Katalin, Hammer, Trine Bjørg, Møller, Rikke S., Shinde, Deepali N., Tang, Sha, Smith, Lacey, Poduri, Annapurna, Krause, Roland, Benninger, Felix, Helbig, Katherine L., Haucke, Volker, Weber, Yvonne G., Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Depienne, Christel, Guerrini, Renzo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jähn, Johanna, Klein, Karl Martin, Koeleman, Bobby P.C., Komarek, Vladimir, Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes R., Lerche, Holger, Linnankivi, Tarja, Marini, Carla, May, Patrick, Muhle, Hiltrud, Pal, Deb K., Palotie, Aarno, Rosenow, Felix, Schubert-Bast, Susanne, Selmer, Kaja, Serratosa, Jose M., Sisodiya, Sanjay, Stephani, Ulrich, Striano, Pasquale, Suls, Arvid, Talvik, Tiina, von Spiczak, Sarah, Weckhuysen, Sarah, Zara, Federico, Avillach, Paul, Bartels, Anna, Biswas, Sawona, Bourgeois, Florence, Devkota, Batsal, Glauser, Tracy, Hallinan, Barbara, Heath, Allison, Hirschhorn, Joel, Kilbourn, Judson, Kong, Sek Won, Krantz, Ian, Lee, In-Hee, Mandl, Kenneth D., Marsh, Eric, Sund, Kristen, Taylor, Deanne, White, Peter

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