Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders

TRPM3 is a temperature- and neurosteroid-sensitive plasma membrane cation channel expressed in a variety of neuronal and non-neuronal cells. Recently, rare de novo variants in TRPM3 were identified in individuals with developmental and epileptic encephalopathy, but the link between TRPM3 activity an...

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Detalles Bibliográficos
Autores principales: Burglen, Lydie, Van Hoeymissen, Evelien, Qebibo, Leila, Barth, Magalie, Belnap, Newell, Boschann, Felix, Depienne, Christel, De Clercq, Katrien, Douglas, Andrew GL, Fitzgerald, Mark P, Foulds, Nicola, Garel, Catherine, Helbig, Ingo, Held, Katharina, Horn, Denise, Janssen, Annelies, Kaindl, Angela M, Narayanan, Vinodh, Prager, Christina, Rupin-Mas, Mailys, Afenjar, Alexandra, Zhao, Siyuan, Ramaekers, Vincent Th, Ruggiero, Sarah M, Thomas, Simon, Valence, Stéphanie, Van Maldergem, Lionel, Rohacs, Tibor, Rodriguez, Diana, Dyment, David, Voets, Thomas, Vriens, Joris
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2023
Materias:
Cell Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9886277/
https://www.ncbi.nlm.nih.gov/pubmed/36648066
http://dx.doi.org/10.7554/eLife.81032

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