Prof. Dr. Hande ÇAĞLAYAN

Contact:
Boğaziçi University
Molecular Biology and Genetics
Kuzey Park, 305
34342 Bebek - Istanbul

hande@boun.edu.tr
+90 (212) 358 6881
• Hande Çağlayan's personal webpage
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Research


Human Molecular Genetics, Human Molecular Evolution

Molecular pathology of heritable bleeding disorders and development of methods for their molecular diagnosis. Identification of FVIII and FIX genes in Turkish patients and the use of these genes as model systems to answer some of the basic concepts in molecular genetics.
Molecular Genetics of Idiopathic Generalized Epilepsy; Molecular pathology of BFNC and EPM1 Epilepsy subtypes in Turkish patients.
Establishment of national mutation databases for hemophilia A and hemophilia B.
Molecular Genetics of Idiopathic Generalized Epilepsy; Molecular pathology of BFNC and EPM1 Epilepsy subtypes in Turkish patients.
Establishment of national mutation databases for hemophilia A and hemophilia B.


Selected Publications


  • Usluer S, Salar S, Arslan M, Yiş U, Kara B, Tektürk P, Baykan B, Meral C, Türkdoğan D, Bebek N, Yalçın Çapan Ö, Gündoğdu Eken A, Çağlayan SH (2016) SCN1A gene sequencing in 46 Turkish epilepsy patients disclosed 12 novel mutations.
    Seizure, 39:34-43. doi: 10.1016/j.seizure.2016.05.008.

  • Mignot C, von Stülpnagel C, Nava C, Ville D, Sanlaville D, Lesca G, Rastetter A, Gachet B, Marie Y, Korenke GC, Borggraefe I, Hoffmann-Zacharska D, Szczepanik E, Rudzka-Dybała M, Yiş U, Çağlayan H, Isapof A, Marey I, Panagiotakaki E, Korff C, Rossier E, Riess A, Beck-Woedl S, Rauch A, Zweier C, Hoyer J, Reis A, Mironov M, Bobylova M, Mukhin K, Hernandez-Hernandez L, Maher B, Sisodiya S, Kuhn M, Glaeser D, Wechuysen S, Myers CT, Mefford HC, Hörtnagel K, Biskup S; EuroEPINOMICS-RES MAE working group, Lemke JR, Héron D, Kluger G, Depienne C. (2016) Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.
    J Med Genet.pii: jmedgenet-2015-103451. doi: 10.1136/jmedgenet-2015-103451.

  • Hardies K, de Kovel CG, Weckhuysen S, Asselbergh B, Geuens T, Deconinck T, Azmi A, May P, Brilstra E, Becker F, Barisic N, Craiu D, Braun KP, Lal D, Thiele H, Schubert J, Weber Y, van 't Slot R, Nürnberg P, Balling R, Timmerman V, Lerche H, Maudsley S, Helbig I, Suls A, Koeleman BP, De Jonghe P; autosomal recessive working group of the EuroEPINOMICS RES Consortium (2015) Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.
    Brain 138(Pt 11):3238-50. doi: 10.1093/brain/awv263.

  • Carvill GL, McMahon JM, Schneider A, Zemel M, Myers CT, Saykally J, Nguyen J, Robbiano A, Zara F, Specchio N, Mecarelli O, Smith RL, Leventer RJ, Møller RS, Nikanorova M, Dimova P, Jordanova A, Petrou S; EuroEPINOMICS Rare Epilepsy Syndrome Myoclonic-Astatic Epilepsy & Dravet working group, Helbig I, Striano P, Weckhuysen S, Berkovic SF, Scheffer IE, Medford HC (2015) Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.
    Am J Hum Genet. 96(5):808-15. doi: 10.1016/j.ajhg.2015.02.016.

  • Galizia EC, Myers CT, Leu C, de Kovel CG, Afrikanova T, Cordero-Maldonado ML, Martins TG, Jacmin M, Drury S, Krishna Chinthapalli V, Muhle H, Pendziwiat M, Sander T, Ruppert AK, Møller RS, Thiele H, Krause R, Schubert J, Lehesjoki AE, Nürnberg P, Lerche H; EuroEPINOMICS CoGIE Consortium, Palotie A, Coppola A, Striano S, Gaudio LD, Boustred C, Schneider AL, Lench N, Jocic-Jakubi B, Covanis A, Capovilla G, Veggiotti P, Piccioli M, Parisi P, Cantonetti L, Sadleir LG, Mullen SA, Berkovic SF, Stephani U, Helbig I, Crawford AD, Esguerra CV, Kasteleijn-Nolst Trenité DG, Koeleman BP, Mefford HC, Scheffer IE, Sisodiya SM. (2015) CHD2 variants are a risk factor for photosensitivity in epilepsy.
    Brain 38(Pt 5):1198-207. doi: 10.1093/brain/awv052.

  • Syrbe S, Hedrich UB, Riesch E, Djémié T, Müller S, Møller RS, Maher B, Hernandez-Hernandez L, Synofzik M, Caglayan HS, Arslan M, Serratosa JM, Nothnagel M, May P, Krause R, Löffler H, Detert K, Dorn T, Vogt H, Krämer G, Schöls L, Mullis PE, Linnankivi T, Lehesjoki AE, Sterbova K, Craiu DC, Hoffman-Zacharska D, Korff CM, Weber YG, Steinlin M, Gallati S, Bertsche A, Bernhard MK, Merkenschlager A, Kiess W; EuroEPINOMICS RES, Gonzalez M, Züchner S, Palotie A, Suls A, De Jonghe P, Helbig I, Biskup S, Wolff M, Maljevic S, Schüle R, Sisodiya SM, Weckhuysen S, Lerche H, Lemke JR. (2015)De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
    Nat Genet. 47(4):393-9. doi: 10.1038/ng.3239.