Publications by authors named "Hande Caglayan"

27Publications

Possible role of skeletal muscle mutation in apnea during seizure.

Epilepsia Open 2019 Sep 1;4(3):498-503. Epub 2019 Jul 1.

Department of Molecular Biology and Genetics Boğaziçi University Istanbul Turkey.

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http://dx.doi.org/10.1002/epi4.12347DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6698682PMC
September 2019

Rare coding variants in genes encoding GABA receptors in genetic generalised epilepsies: an exome-based case-control study.

Authors:
Patrick May Simon Girard Merle Harrer Dheeraj R Bobbili Julian Schubert Stefan Wolking Felicitas Becker Pamela Lachance-Touchette Caroline Meloche Micheline Gravel Cristina E Niturad Julia Knaus Carolien De Kovel Mohamad Toliat Anne Polvi Michele Iacomino Rosa Guerrero-López Stéphanie Baulac Carla Marini Holger Thiele Janine Altmüller Kamel Jabbari Ann-Kathrin Ruppert Wiktor Jurkowski Dennis Lal Raffaella Rusconi Sandrine Cestèle Benedetta Terragni Ian D Coombs Christopher A Reid Pasquale Striano Hande Caglayan Auli Siren Kate Everett Rikke S Møller Helle Hjalgrim Hiltrud Muhle Ingo Helbig Wolfram S Kunz Yvonne G Weber Sarah Weckhuysen Peter De Jonghe Sanjay M Sisodiya Rima Nabbout Silvana Franceschetti Antonietta Coppola Maria S Vari Dorothée Kasteleijn-Nolst Trenité Betul Baykan Ugur Ozbek Nerses Bebek Karl M Klein Felix Rosenow Dang K Nguyen François Dubeau Lionel Carmant Anne Lortie Richard Desbiens Jean-François Clément Cécile Cieuta-Walti Graeme J Sills Pauls Auce Ben Francis Michael R Johnson Anthony G Marson Bianca Berghuis Josemir W Sander Andreja Avbersek Mark McCormack Gianpiero L Cavalleri Norman Delanty Chantal Depondt Martin Krenn Fritz Zimprich Sarah Peter Marina Nikanorova Robert Kraaij Jeroen van Rooij Rudi Balling M Arfan Ikram André G Uitterlinden Giuliano Avanzini Stephanie Schorge Steven Petrou Massimo Mantegazza Thomas Sander Eric LeGuern Jose M Serratosa Bobby P C Koeleman Aarno Palotie Anna-Elina Lehesjoki Michael Nothnagel Peter Nürnberg Snezana Maljevic Federico Zara Patrick Cossette Roland Krause Holger Lerche

Lancet Neurol 2018 08 17;17(8):699-708. Epub 2018 Jul 17.

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http://dx.doi.org/10.1016/S1474-4422(18)30215-1DOI Listing
August 2018

Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE).

Eur J Paediatr Neurol 2017 Sep 13;21(5):773-782. Epub 2017 May 13.

Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10903798173161
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http://dx.doi.org/10.1016/j.ejpn.2017.05.001DOI Listing
September 2017

Functional characterisation of the type 1 von Willebrand disease candidate VWF gene variants: p.M771I, p.L881R and p.P1413L.

Blood Transfus 2017 Oct 25;15(6):548-556. Epub 2016 Jul 25.

Department of Pathology and Molecular Medicine, Queen's University, Kingston, Canada.

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http://dx.doi.org/10.2450/2016.0034-16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5649964PMC
October 2017

SCN1A gene sequencing in 46 Turkish epilepsy patients disclosed 12 novel mutations.

Seizure 2016 Jul 19;39:34-43. Epub 2016 May 19.

Department of Molecular Biology and Genetics, Boğaziçi University, İstanbul, Turkey. Electronic address:

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http://dx.doi.org/10.1016/j.seizure.2016.05.008DOI Listing
July 2016

A novel mutation in the sodium channel α1 subunit gene in a child with Dravet syndrome in Turkey.

Neural Regen Res 2013 Apr;8(10):955-8

Department of Pediatric Neurology, Gülhane Military Medical School, Etlik, Ankara 06018, Turkey.

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http://dx.doi.org/10.3969/j.issn.1673-5374.2013.10.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4145926PMC
April 2013

Double trouble: Duchenne muscular dystrophy and hemophilia.

Pediatr Blood Cancer 2013 Mar 19;60(3):525. Epub 2012 Dec 19.

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http://dx.doi.org/10.1002/pbc.24376DOI Listing
March 2013

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

Hum Mol Genet 2012 Dec 4;21(24):5359-72. Epub 2012 Sep 4.

Institute for Medical Biometry, Informatic and Epidemiology, University of Bonn, Bonn, Germany.

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http://hmg.oxfordjournals.org/content/21/24/5359.full.pdf
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/dds373
Publisher Site
http://dx.doi.org/10.1093/hmg/dds373DOI Listing
December 2012

A common VWF exon 28 haplotype in the Turkish population.

Clin Appl Thromb Hemost 2013 Sep 2;19(5):550-6. Epub 2012 Apr 2.

1Department of Molecular Biology and Genetics, Istanbul Arel University, Istanbul, Turkey.

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http://dx.doi.org/10.1177/1076029612441054DOI Listing
September 2013

Presentation of an unusual patient with Lafora disease.

Epileptic Disord 2012 Mar;14(1):94-8

Division of Neurology, Istanbul University Cerrahpaşa, Neurology Department, Cerrahpaşa, Istanbul, Turkey.

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http://dx.doi.org/10.1684/epd.2012.0489DOI Listing
March 2012

Four novel and two recurrent NHLRC1 (EPM2B) and EPM2A gene mutations leading to Lafora disease in six Turkish families.

Epilepsy Res 2012 Feb 1;98(2-3):273-6. Epub 2011 Nov 1.

Department of Molecular Biology and Genetics, Boğaziçi University, İstanbul, Turkey.

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http://dx.doi.org/10.1016/j.eplepsyres.2011.09.020DOI Listing
February 2012

A novel missense mutation (N258S) in the KCNQ2 gene in a Turkish family afflicted with benign familial neonatal convulsions (BFNC).

Turk J Pediatr 2007 Oct-Dec;49(4):385-9

Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey.

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February 2008

Intron 1 inversion mutation among Turkish hemophilia A patients.

Turk J Haematol 2006 Mar;23(1):33-6

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March 2006