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Research Report

Novel Mutations in the KCNV2 Gene in Patients with Cone Dystrophy and a Supernormal Rod Electroretinogram

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Pages 135-142 | Received 06 Mar 2007, Accepted 11 Jun 2007, Published online: 08 Jul 2009

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Pei-Kang Liu, Joseph Ryu, Lung-Kun Yeh, Kuan-Jen Chen, Stephen H. Tsang, Laura Liu & Nan-Kai Wang. (2021) A novel KCNV2 mutation in a patient taking hydroxychloroquine associated with cone dystrophy with supernormal rod response. Ophthalmic Genetics 42:4, pages 458-463.
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Thales A. C. De Guimaraes, Michalis Georgiou, Anthony G. Robson & Michel Michaelides. (2020) KCNV2 retinopathy: clinical features, molecular genetics and directions for future therapy. Ophthalmic Genetics 41:3, pages 208-215.
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Articles from other publishers (27)

Yulia Haraguchi, Tsun-Kang Chiang & Minzhong Yu. (2023) Application of Electrophysiology in Non-Macular Inherited Retinal Dystrophies. Journal of Clinical Medicine 12:21, pages 6953.
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Andrew T. Rider, G. Bruce Henning & Andrew Stockman. (2022) A reinterpretation of critical flicker-frequency (CFF) data reveals key details about light adaptation and normal and abnormal visual processing. Progress in Retinal and Eye Research 87, pages 101001.
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João Esteves-Leandro, Sónia Torres-Costa, Sérgio Estrela-Silva, Renato Santos-Silva, Elisete Brandão, Ana Grangeia, Susana Fernandes, Renata Oliveira, Fernando Falcão-Reis & Amândio Rocha-Sousa. (2021) Cone dystrophy with supernormal rod responses: A rare KCNV2 gene variant. European Journal of Ophthalmology 32:1, pages 664-672.
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Michalis Georgiou, Kaoru Fujinami, Ajoy Vincent, Fadi Nasser, Samer Khateb, Mauricio E. Vargas, Alberta A.H.J. Thiadens, Emanuel R. de Carvalho, Xuan-Thanh-An Nguyen, Thales Antônio Cabral De Guimarães, Anthony G. Robson, Omar A. Mahroo, Nikolas Pontikos, Gavin Arno, Yu Fujinami-Yokokawa, Shaun Michael Leo, Xiao Liu, Kazushige Tsunoda, Takaaki Hayashi, Belen Jimenez-Rolando, Maria Inmaculada Martin-Merida, Almudena Avila-Fernandez, Ester Carreño, Blanca Garcia-Sandoval, Carmen Ayuso, Dror Sharon, Susanne Kohl, Rachel M. Huckfeldt, Camiel J.F. Boon, Eyal Banin, Mark E. Pennesi, Bernd Wissinger, Andrew R. Webster, Elise Héon, Arif O. Khan, Eberhart Zrenner & Michel Michaelides. (2021) KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints—KCNV2 Study Group Report 2. American Journal of Ophthalmology 230, pages 1-11.
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Rabab Rashwan, David M. Hunt & Livia S. Carvalho. (2021) The role of voltage-gated ion channels in visual function and disease in mammalian photoreceptors. Pflügers Archiv - European Journal of Physiology 473:9, pages 1455-1468.
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Andrew Stockman, G. Bruce Henning & Andrew T. Rider. (2021) Clinical vision and molecular loss: Integrating visual psychophysics with molecular genetics reveals key details of normal and abnormal visual processing. Progress in Retinal and Eye Research 83, pages 100937.
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Xiaotian Jiang, Rabab Rashwan, Valentina Voigt, Jeanne Nerbonne, David M. Hunt & Livia S. Carvalho. (2021) Molecular, Cellular and Functional Changes in the Retinas of Young Adult Mice Lacking the Voltage-Gated K+ Channel Subunits Kv8.2 and K2.1. International Journal of Molecular Sciences 22:9, pages 4877.
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Michalis Georgiou, Anthony G. Robson, Kaoru Fujinami, Shaun M. Leo, Ajoy Vincent, Fadi Nasser, Thales Antônio Cabral De Guimarães, Samer Khateb, Nikolas Pontikos, Yu Fujinami-Yokokawa, Xiao Liu, Kazushige Tsunoda, Takaaki Hayashi, Mauricio E. Vargas, Alberta A.H.J. Thiadens, Emanuel R. de Carvalho, Xuan-Thanh-An Nguyen, Gavin Arno, Omar A. Mahroo, Maria Inmaculada Martin-Merida, Belen Jimenez-Rolando, Gema Gordo, Ester Carreño, Carmen Ayuso, Dror Sharon, Susanne Kohl, Rachel M. Huckfeldt, Bernd Wissinger, Camiel J.F. Boon, Eyal Banin, Mark E. Pennesi, Arif O. Khan, Andrew R. Webster, Eberhart Zrenner, Elise Héon & Michel Michaelides. (2021) KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course—KCNV2 Study Group Report 1. American Journal of Ophthalmology 225, pages 95-107.
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Jordi Maggi, Samuel Koller, Luzy Bähr, Silke Feil, Fatma Kivrak Pfiffner, James V. M. Hanson, Alessandro Maspoli, Christina Gerth-Kahlert & Wolfgang Berger. (2021) Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. International Journal of Molecular Sciences 22:4, pages 1508.
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Meha Kabra & Bikash Ranjan Pattnaik. (2020) Sensing through Non-Sensing Ocular Ion Channels. International Journal of Molecular Sciences 21:18, pages 6925.
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Gulunay Kiray, Micah Rapata, Dianne Sharp & Andrea L. Vincent. (2020) Pseudodominance in two families with KCNV2 related retinopathy. American Journal of Ophthalmology Case Reports 18, pages 100625.
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Chia-Yin Chiang, Yung-Hao Ching, Ting-Yan Chang, Liang-Shuan Hu, Yee Siang Yong, Pei Ying Keak, Ivana Mustika, Ming-Der Lin & Ben-Yang Liao. (2020) Novel eye genes systematically discovered through an integrated analysis of mouse transcriptomes and phenome. Computational and Structural Biotechnology Journal 18, pages 73-82.
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Justyna Jędrychowska & Vladimir Korzh. (2019) Kv2.1 voltage‐gated potassium channels in developmental perspective. Developmental Dynamics 248:12, pages 1180-1194.
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Frederick T. Collison, Jason C. Park, Gerald A. Fishman, Edwin M. Stone & J. Jason McAnany. (2019) Two-color pupillometry in KCNV2 retinopathy. Documenta Ophthalmologica 139:1, pages 11-20.
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Nathan S. Hart, Jessica K. Mountford, Valentina Voigt, Paula Fuller-Carter, Melanie Barth, Jeanne M. Nerbonne, David M. Hunt & Livia S. Carvalho. (2019) The Role of the Voltage-Gated Potassium Channel Proteins Kv8.2 and Kv2.1 in Vision and Retinal Disease: Insights from the Study of Mouse Gene Knock-Out Mutations. eneuro 6:1, pages ENEURO.0032-19.2019.
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Negin Agange & David Sarraf. (2017) OCCULT MACULAR DYSTROPHY WITH MUTATIONS IN THE RP1L1 AND KCNV2 GENES. RETINAL Cases & Brief Reports 11:1, pages S65-S67.
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Elke Bocksteins. (2016) Kv5, Kv6, Kv8, and Kv9 subunits: No simple silent bystanders. Journal of General Physiology 147:2, pages 105-125.
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Lin Ge & Xiao-dong Liu. (2016) Electrical resonance with voltage-gated ion channels: perspectives from biophysical mechanisms and neural electrophysiology. Acta Pharmacologica Sinica 37:1, pages 67-74.
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Jonathan P. Giblin, Nuria Comes, Olaf Strauss & Xavier Gasull. 2016. Ion channels as therapeutic targets, part B. Ion channels as therapeutic targets, part B 157 231 .
Lina Zelinger, Bernd Wissinger, Dalia Eli, Susanne Kohl, Dror Sharon & Eyal Banin. (2013) Cone Dystrophy with Supernormal Rod Response. Ophthalmology 120:11, pages 2338-2343.
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Katie E. Smith, Susan E. Wilkie, Joseph T. Tebbs-Warner, Bradley J. Jarvis, Linn Gallasch, Martin Stocker & David M. Hunt. (2012) Functional Analysis of Missense Mutations in Kv8.2 Causing Cone Dystrophy with Supernormal Rod Electroretinogram. Journal of Biological Chemistry 287:52, pages 43972-43983.
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Isaac Wang, Naheed W. Khan, Kari Branham, B. Wissinger, Susanne Kohl & J. R. Heckenlively. (2012) Establishing baseline rod electroretinogram values in achromatopsia and cone dystrophy. Documenta Ophthalmologica 125:3, pages 229-233.
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Elke Bocksteins & Dirk J. Snyders. (2012) Electrically Silent Kv Subunits: Their Molecular and Functional Characteristics. Physiology 27:2, pages 73-84.
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Bernd Wissinger, Simone Schaich, Britta Baumann, Michael Bonin, Herbert Jägle, Christoph Friedburg, Balázs Varsányi, Carel B. Hoyng, Hélène Dollfus, John R. Heckenlively, Thomas Rosenberg, Günter Rudolph, Ulrich Kellner, Roberto Salati, Astrid Plomp, Elfride De Baere, Monika Andrassi-Darida, Alexandra Sauer, Christiane Wolf, Ditta Zobor, Antje Bernd, Bart P. Leroy, Péter Enyedi, Frans P.M. Cremers, Birgit Lorenz, Eberhart Zrenner & Susanne Kohl. (2011) Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response . Human Mutation 32:12, pages 1398-1406.
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Benjamin S. Jorge, Courtney M. Campbell, Alison R. Miller, Elizabeth D. Rutter, Christina A. Gurnett, Carlos G. Vanoye, Alfred L. GeorgeJr.Jr. & Jennifer A. Kearney. (2011) Voltage-gated potassium channel KCNV2 (Kv8.2) contributes to epilepsy susceptibility . Proceedings of the National Academy of Sciences 108:13, pages 5443-5448.
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Alberta A.H.J. Thiadens, Anneke I. den Hollander, Susanne Roosing, Sander B. Nabuurs, Renate C. Zekveld-Vroon, Rob W.J. Collin, Elfride De Baere, Robert K. Koenekoop, Mary J. van Schooneveld, Tim M. Strom, Janneke J.C. van Lith-Verhoeven, Andrew J. Lotery, Norka van Moll-Ramirez, Bart P. Leroy, L. Ingeborgh van den Born, Carel B. Hoyng, Frans P.M. Cremers & Caroline C.W. Klaver. (2009) Homozygosity Mapping Reveals PDE6C Mutations in Patients with Early-Onset Cone Photoreceptor Disorders. The American Journal of Human Genetics 85:2, pages 240-247.
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Safouane Ben Salah, Satomi Kamei, Audrey Sénéćhal, Séverine Lopez, Christian Bazalgette, Cécile Bazalgette, Claudie Malrieu Eliaou, Xavier Zanlonghi & Christian P. Hamel. (2008) Novel KCNV2 Mutations in Cone Dystrophy with Supernormal Rod Electroretinogram. American Journal of Ophthalmology 145:6, pages 1099-1106.
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