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Stretch-activated Ion Channel TMEM63B Associates with Developmental and Epileptic Encephalopathies and Progressive Neurodegeneration

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

AMERICAN JOURNAL OF HUMAN GENETICS（2023）

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Key words
epilepsy,infantile spasms,abnormal myelination,white matter abnormality,ion channels,leak cation currents,epileptic encephalopathy,hemolytic anemia,osmotic stress
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