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The newest TRP channelopathy: Gain of function TRPM3 mutations cause epilepsy and intellectual disability

Siyuan ZhaoDepartment of Pharmacology, Physiology and Neuroscience, Rutgers, New Jersey Medical School, Newark, NJ, USAView further author information

Tibor RohacsDepartment of Pharmacology, Physiology and Neuroscience, Rutgers, New Jersey Medical School, Newark, NJ, USACorrespondence[email protected]

https://orcid.org/0000-0003-3580-2575 View further author information

Pages 386-397 | Received 21 Jan 2021, Accepted 25 Feb 2021, Published online: 14 Apr 2021

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https://doi.org/10.1080/19336950.2021.1908781
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Jianxiong Jiang & Ying Yu. (2023) Pharmacologically targeting transient receptor potential channels for seizures and epilepsy: Emerging preclinical evidence of druggability. Pharmacology & Therapeutics 244, pages 108384.
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Felix Yang, Andy Sivils, Victoria Cegielski, Som Singh & Xiang-Ping Chu. (2023) Transient Receptor Potential (TRP) Channels in Pain, Neuropsychiatric Disorders, and Epilepsy. International Journal of Molecular Sciences 24:5, pages 4714.
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Barbara Spix, Andrew J. Castiglioni, Natalie N. Remis, Emma N. Flores, Philipp Wartenberg, Amanda Wyatt, Ulrich Boehm, Thomas Gudermann, Martin Biel, Jaime García-Añoveros & Christian Grimm. (2022) Whole-body analysis of TRPML3 (MCOLN3) expression using a GFP-reporter mouse model reveals widespread expression in secretory cells and endocrine glands. PLOS ONE 17:12, pages e0278848.
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Marc Behrendt. (2022) TRPM3 in the eye and in the nervous system – from new findings to novel mechanisms. Biological Chemistry 403:8-9, pages 859-868.
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Krisztina Hagymási. (2022) The nobel prize in physiology or medicine — 2021. Structural Chemistry 33:3, pages 987-990.
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Matthew A. Lines, Paula Goldenberg, Ashley Wong, Siddharth Srivastava, Allan Bayat, Hanne Hove, Helena Gásdal Karstensen, Kwame Anyane‐Yeboa, Jun Liao, Nan Jiang, Alison May, Edwin Guzman, Manuela Morleo, Stefano D'Arrigo, Claudia Ciaccio, Chiara Pantaleoni, Raffaele Castello, Shane McKee, Jinfon Ong, Hana Zibdeh‐Lough, Frederic Tran‐Mau‐Them, Anna Gerasimenko, Delphine Heron, Boris Keren, Henri Margot, Jean‐Madeleine Sainte Agathe, Lydie Burglen, Thomas Voets, Joris Vriens, A. Micheil Innes & David A. Dyment. (2022) Phenotypic spectrum of the recurrent TRPM3 p.( Val837Met ) substitution in seven individuals with global developmental delay and hypotonia . American Journal of Medical Genetics Part A 188:6, pages 1667-1675.
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Claudia García-Rodríguez, Iván D. Bravo-Tobar, Yorley Duarte, Luis C. Barrio & Juan C. Sáez. (2022) Contribution of non-selective membrane channels and receptors in epilepsy. Pharmacology & Therapeutics 231, pages 107980.
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B. A. Thompson, K. Dear, E. Donaldson, R. Nixon & I. M. Winship. (2021) A novel candidate gene in autosomal dominant facial pruritus. Clinical and Experimental Dermatology 47:1, pages 184-186.
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Lucas W Gauthier, Nicolas Chatron, Sara Cabet, Audrey Labalme, Maryline Carneiro, Isabelle Poirot, Céline Delvert, Arnaud Gleizal, Gaetan Lesca & Audrey Putoux. (2021) Description of a novel patient with the TRPM3 recurrent p.Val837Met variant. European Journal of Medical Genetics 64:11, pages 104320.
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The newest TRP channelopathy: Gain of function TRPM3 mutations cause epilepsy and intellectual disability

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The newest TRP channelopathy: Gain of function TRPM3 mutations cause epilepsy and intellectual disability

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