Article
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
American journal of human genetics - 3 Aug 2023
Vetro Annalisa, Pelorosso Cristiana, Balestrini Simona, Masi Alessio, Hambleton Sophie, Argilli Emanuela, Conti Valerio, Giubbolini Simone, Barrick Rebekah, Bergant Gaber, Writzl Karin, Bijlsma Emilia K, Brunet Theresa, Cacheiro Pilar, Mei Davide, Devlin Anita, Hoffer Mariëtte J V, Machol Keren, Mannaioni Guido, Sakamoto Masamune, Menezes Manoj P, Courtin Thomas, Sherr Elliott, Parra Riccardo, Richardson Ruth, Roscioli Tony, Scala Marcello, von Stülpnagel Celina, Smedley Damian, Torella Annalaura, Tohyama Jun, Koichihara Reiko, Hamada Keisuke, Ogata Kazuhiro, Suzuki Takashi, Sugie Atsushi, van der Smagt Jasper J, van Gassen Koen, Valence Stephanie, Vittery Emma, Malone Stephen, Kato Mitsuhiro, Matsumoto Naomichi, Ratto Gian Michele, Guerrini Renzo
Abstract excerpt
By converting physical forces into electrical signals or triggering intracellular cascades, stretch-activated ion channels allow the cell to respond to osmotic and mechanical stress. Knowledge of the pathophysiological mechanisms underlying associations of stretch-activated ion channels with human disease is limited. Here, we describe 17 unrelated individuals with severe early-onset developmental and epileptic...
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