Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

Vetro, Annalisa; Pelorosso, Cristiana; Balestrini, Simona; Masi, Alessio; Hambleton, Sophie; Argilli, Emanuela; Conti, Valerio; Giubbolini, Simone; Barrick, Rebekah; Bergant, Gaber; Writzl, Karin; Emilia, K Bijlsma; Brunet, Theresa; Cacheiro, Pilar; Mei, Davide; Anita Devlin, 4; Mariëtte J, V Hoffer; Machol, Keren; Mannaioni, Guido; Sakamoto, Masamune; Manoj, P Menezes; Courtin, Thomas; Sherr, Elliott; Parra, Riccardo; Richardson, Ruth; Roscioli, Tony; Scala, Marcello; Celina Von Stülpnagel,; Smedley, Damian; Genomics England Research Consortium,; Torella, Annalaura; Tohyama, Jun; Koichihara, Reiko; Hamada, Keisuke; Ogata, Kazuhiro; Suzuki, Takashi; Sugie, Atsushi; Jasper, J Van Der Smagt; Koen Van Gassen,; Valence, Stephanie; Vittery, Emma; Malone, Stephen; Kato, Mitsuhiro; Matsumoto, Naomichi; Gian Michele Ratto,; Guerrini, Renzo; Collaborators, Tmem63b

doi:10.1016/j.ajhg.2023.06.008

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.

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration / Annalisa Vetro, C.P., TMEM63B collaborators, Genomics England Research Consortium, Annalaura Torella, J.T.. - In: AMERICAN JOURNAL OF HUMAN GENETICS. - ISSN 0002-9297. - ELETTRONICO. - 110:(2023), pp. 1356-1376. [10.1016/j.ajhg.2023.06.008]