Search Results - "Caglayan, S Hande"

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

“…Recently, de novo mutations in the gene KCNA2, causing either a dominant-negative loss-of-function or a gain-of-function of the voltage-gated K+ channel Kv1.2,…”
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De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy by Syrbe, Steffen, Hedrich, Ulrike B S, Riesch, Erik, Djémié, Tania, Müller, Stephan, Møller, Rikke S, Maher, Bridget, Hernandez-Hernandez, Laura, Synofzik, Matthis, Caglayan, Hande S, Arslan, Mutluay, Serratosa, José M, Nothnagel, Michael, May, Patrick, Krause, Roland, Löffler, Heidrun, Detert, Katja, Dorn, Thomas, Vogt, Heinrich, Krämer, Günter, Schöls, Ludger, Mullis, Primus E, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Sterbova, Katalin, Craiu, Dana C, Hoffman-Zacharska, Dorota, Korff, Christian M, Weber, Yvonne G, Steinlin, Maja, Gallati, Sabina, Bertsche, Astrid, Bernhard, Matthias K, Merkenschlager, Andreas, Kiess, Wieland, Gonzalez, Michael, Züchner, Stephan, Palotie, Aarno, Suls, Arvid, De Jonghe, Peter, Helbig, Ingo, Biskup, Saskia, Wolff, Markus, Maljevic, Snezana, Schüle, Rebecca, Sisodiya, Sanjay M, Weckhuysen, Sarah, Lerche, Holger, Lemke, Johannes R

“…Johannes Lemke, Holger Lerche and colleagues report the identification of de novo mutations in the potassium channel gene KCNA2 in patients with epileptic…”
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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

“…Dravet syndrome is a severe epilepsy syndrome characterized by infantile onset of therapy-resistant, fever-sensitive seizures followed by cognitive decline…”
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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.

“…•Nine patients harbor pathological (P) or likely pathological (LP) mutations (31%) and three patients have VUS variants (10%) out of 29 DEE patients.•De novo…”
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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.

“…•Exome data of DEE patient revealed compound heterozygous mutations (p.Asp257Asn and p.Arg262Cys) in the GOT2 gene.•Sanger sequencing showed that p.Asp257Asn…”
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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

“…FZR1, which encodes the Cdh1 subunit of the anaphase-promoting complex, plays an important role in neurodevelopment by regulating the cell cycle and by its…”
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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

“…Abnormalities in the biosynthetic pathway or increased clearance of plasma von Willebrand factor (VWF) are likely to contribute to decreased plasma VWF levels…”
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Lafora Disease: Molecular Etiology by S. Hande ÇAĞLAYAN

“…Lafora Disease (LD) is a fatal neurodegenerative condition characterized by the accumulation of abnormal glycogen inclusions known as Lafora bodies (LBs)…”
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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

“…Highlights • SCN1A screening conducted in 46 Turkish patients with DS spectrum phenotypes. • Nineteen mutation was identified, 12 of which were novel. •…”
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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.

“…SCN4A gene mutations cause a number of neuromuscular phenotypes including myotonia. A subset of infants with myotonia‐causing mutations experience severe…”
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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

“…ABSTRACT Benign familial infantile epilepsy (BFIE) is clinically characterized by clusters of brief partial seizures progressing to secondarily generalized…”
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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

“…Summary Lafora disease (LD) is a type of autosomal recessive, progressive myoclonus epilepsy resulting mostly from mutations in the EPM2A and NHLRC1 genes…”
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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

“…An increasing number of mutations and polymorphisms have been identified in the von Willebrand factor (VWF) gene of patients with von Willebrand disease (VWD)…”
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Factor 8 (F8) gene mutation profile of Turkish hemophilia A patients with inhibitors by Fidanci, Inanç D, Kavakli, Kaan, Uçar, Canan, Timur, Çetin, Meral, Adalet, Klnç, Yurdanur, Saylan, Hülya, Kazanc, Elif, Çağlayan, S Hande

“…Factor VIII (FVIII) replacement therapy is ineffective in hemophilia A patients who develop alloantibodies (inhibitors) against FVIII. The type of factor 8…”
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A novel missense mutation (N258S) in the KCNQ2 gene in a Turkish family afflicted with benign familial neonatal convulsions (BFNC) by Yalçin, Ozlem, Cağlayan, S Hande, Saltik, Sema, Cokar, Ozlem, Ağan, Kadriye, Dervent, Aysin, Steinlein, Ortrud K

“…Benign familial neonatal convulsions (BFNC) is a rare monogenic subtype of idiopathic epilepsy exhibiting autosomal dominant mode of inheritance. The disease…”
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Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals by Howrigan, Daniel P., Abbott, Liam E., Tashman, Katherine, Singh, Tarjinder, Watts, Nick, Lal, Dennis, Hakonarson, Hakon, Weckhuysen, Sarah, Petrovski, Slavé, Cossette, Patrick, Cotsapas, Chris, De Jonghe, Peter, Guerrini, Renzo, Marson, Anthony G., Depondt, Chantal, Striano, Pasquale, Freyer, Catharine, Regan, Brigid M., Leu, Costin, Johns, Esther M.C., Macdonald, Alexandra, Bahlo, Melanie, Todaro, Marian, Stamberger, Hannah, Sadoway, Tara R., Kousiappa, Ioanna, Tanteles, George A., Štěrbová, Katalin, Kunz, Wolfram S., Zsurka, Gábor, Elger, Christian E., Rademacher, Michael, van Baalen, Andreas, von Spiczak, Sarah, Afawi, Zaid, Canavati, Christina, Kluger, Gerhard, Blatt, Ilan, Weber, Yvonne G., Wolking, Stefan, Rau, Sarah, Steinhoff, Bernhard J., Schulze-Bonhage, Andreas, Borggräfe, Ingo, Madeleyn, Rene, Kälviäinen, Reetta, Linnankivi, Tarja, Chung, Seo-Kyung, Balestrini, Simona, Braatz, Vera, Johnson, Michael R., Auce, Pauls, Sham, Pak C., Lui, Colin H.T., Doherty, Colin P., Shukralla, Arif, El-Naggar, Hany, Vari, Maria Stella, Salpietro, Vincenzo, Tinuper, Paolo, Gagliardi, Monica, Montomoli, Martino, Doccini, Viola, Inoue, Yushi, Yamakawa, Kazuhiro, Tumiene, Birute, Sadleir, Lynette G., Caglayan, S. Hande, Arslan, Mutluay, Yis, Uluc, Topaloglu, Pınar, Baykan, Betül, Salman, Barış, Haryanyan, Garen, Özkara, Çiğdem, Poduri, Annapurna, Shiedley, Beth R., Shain, Catherine, French, Jacqueline A., Kuzniecky, Ruben I., Hegde, Manu, Helbig, Katherine L., Piras, Federica, Reif, Andreas, McQuillin, Andrew, Johnstone, Mandy, Palotie, Aarno, Carvalho, Celia Barreto, Achtyes, Eric D., Azevedo, Maria Helena, Kotov, Roman, Lehrer, Douglas S., Marder, Stephen R., Medeiros, Helena, Morley, Christopher P., Rapaport, Mark H., Knowles, James A., McCarroll, Steven A., Lowenstein, Daniel H., Goldstein, David B.

“…Sequencing-based studies have identified novel risk genes associated with severe epilepsies and revealed an excess of rare deleterious variation in less-severe…”
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Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point mutations by Onay, U. Venüs, Kavakli, Kaan, Kilinç, Yurdanur, Gürgey, Aytemiz, Aktuğlu, Gülten, Kemahli, Sabri, Özbek, Uğur, Çağlayan, S. Hande

“…Heterogeneous mutations in the coagulation factor IX (FIX) gene result in a bleeding tendency known as haemophilia B. The haemophilia B mutation database has a…”
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Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals by Povysil, Gundula, Allen, Andrew S., Howrigan, Daniel P., Tashman, Katherine, Cerrato, Felecia, Cusick, Caroline, Heyne, Henrike, Churchhouse, Claire, Watts, Nick, Lal, Dennis, Gupta, Namrata, Cavalleri, Gianpiero L., Hakonarson, Hakon, Marson, Anthony G., Petrovski, Slavé, Sisodiya, Sanjay M., Depondt, Chantal, Scheffer, Ingrid E., Krause, Roland, Regan, Brigid M., Leu, Costin, Leech, Stephanie L., Todaro, Marian, Stamberger, Hannah, Kousiappa, Ioanna, Tanteles, George A., Christou, Yiolanda, Laššuthová, Petra, Knake, Susanne, Kunz, Wolfram S., Zsurka, Gábor, Surges, Rainer, Rademacher, Annika, von Spiczak, Sarah, Kanaan, Moien, Canavati, Christina, Lemke, Johannes R., Krey, Ilona, Weber, Yvonne G., Wolking, Stefan, Kegele, Josua, Borggräfe, Ingo, Mayer, Thomas, Brockmann, Knut, Madeleyn, Rene, Saarela, Anni, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Derambure, Philippe, Hirsch, Edouard, Chassoux, Francine, Chung, Seo-Kyung, Schneider, Natascha, Balestrini, Simona, Zagaglia, Sara, Johnson, Michael R., Auce, Pauls, Barišić, Nina, Canafoglia, Laura, Franceschetti, Silvana, Castellotti, Barbara, Granata, Tiziana, Ragona, Francesca, Iacomino, Michele, Riva, Antonella, Vari, Maria Stella, Salpietro, Vincenzo, Mancardi, Maria Margherita, Nobili, Lino, Bisulli, Francesca, Pippucci, Tommaso, Licchetta, Laura, Tinuper, Paolo, Gambardella, Antonio, Labate, Angelo, Annesi, Grazia, Manna, Lorella, Parrini, Elena, Bianchini, Claudia, Montomoli, Martino, Hirose, Shinichi, Yamakawa, Kazuhiro, Beydoun, Ahmad, Sadleir, Lynette G., Topaloglu, Pınar, Baykan, Betül, Özkara, YeşÇiğdem, Ho, Chen-Jui, Chou, I-Jun, Shain, Catherine, Goldman, Alicia, Busch, Robyn M., Jehi, Lara, Ferguson, Lisa, Clark, Peggy O., Privitera, Michael, Schachter, Steven, Cosico, Mahgenn, Lowenstein, Daniel H., Goldstein, David B.

“…Both mild and severe epilepsies are influenced by variants in the same genes, yet an explanation for the resulting phenotypic variation is unknown. As part of…”
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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

“…Aminoacyl tRNA synthetases (ARSs) link specific amino acids with their cognate transfer RNAs in a critical early step of protein translation. Mutations in ARSs…”
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Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes by Chen, Siwei, Abou-Khalil, Bassel W., Afawi, Zaid, Ali, Quratulain Zulfiqar, Amadori, Elisabetta, Anderson, Alison, Anderson, Joe, Andrade, Danielle M., Annesi, Grazia, Arslan, Mutluay, Auce, Pauls, Bahlo, Melanie, Baker, Mark D., Balagura, Ganna, Balestrini, Simona, Banks, Eric, Barba, Carmen, Barboza, Karen, Bartolomei, Fabrice, Bass, Nick, Baum, Larry W., Baumgartner, Tobias H., Baykan, Betül, Bebek, Nerses, Becker, Felicitas, Bennett, Caitlin A., Beydoun, Ahmad, Bianchini, Claudia, Bisulli, Francesca, Blackwood, Douglas, Blatt, Ilan, Borggräfe, Ingo, Bosselmann, Christian, Braatz, Vera, Brand, Harrison, Brockmann, Knut, Buono, Russell J., Busch, Robyn M., Caglayan, S. Hande, Canafoglia, Laura, Canavati, Christina, Castellotti, Barbara, Cavalleri, Gianpiero L., Cerrato, Felecia, Chassoux, Francine, Cherian, Christina, Cherny, Stacey S., Cheung, Ching-Lung, Chou, I-Jun, Chung, Seo-Kyung, Churchhouse, Claire, Ciullo, Valentina, Clark, Peggy O., Cole, Andrew J., Cosico, Mahgenn, Cossette, Patrick, Cotsapas, Chris, Cusick, Caroline, Daly, Mark J., Davis, Lea K., Jonghe, Peter De, Delanty, Norman, Dennig, Dieter, Depondt, Chantal, Derambure, Philippe, Devinsky, Orrin, Vito, Lidia Di, Dickerson, Faith, Dlugos, Dennis J., Doccini, Viola, Doherty, Colin P., El-Naggar, Hany, Ellis, Colin A., Epstein, Leon, Evans, Meghan, Faucon, Annika, Feng, Yen-Chen Anne, Ferguson, Lisa, Ferraro, Thomas N., Silva, Izabela Ferreira Da, Ferri, Lorenzo, Feucht, Martha, Fields, Madeline C., Fitzgerald, Mark, Fonferko-Shadrach, Beata, Fortunato, Francesco, Franceschetti, Silvana, French, Jacqueline A., Freri, Elena, Fu, Jack M., Gabriel, Stacey, Gagliardi, Monica, Gambardella, Antonio, Gauthier, Laura, Giangregorio, Tania, Gili, Tommaso, Glauser, Tracy A., Goldberg, Ethan, Goldman, Alica, Goldstein, David B.

“…Identifying genetic risk factors for highly heterogeneous disorders such as epilepsy remains challenging. Here we present, to our knowledge, the largest…”
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