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Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
Vetro A, Pelorosso C, Balestrini S, Masi A, Hambleton S, Argilli E, Conti V, Giubbolini S, Barrick R, Bergant G, Writzl K, Bijlsma EK, Brunet T, Cacheiro P, Mei D, Devlin A, Hoffer MJV, Machol K, Mannaioni G, Sakamoto M, Menezes MP, Courtin T, Sherr E, Parra R, Richardson R, Roscioli T, Scala M, von Stülpnagel C, Smedley D; TMEM63B collaborators; Genomics England Research Consortium; Torella A, Tohyama J, Koichihara R, Hamada K, Ogata K, Suzuki T, Sugie A, van der Smagt JJ, van Gassen K, Valence S, Vittery E, Malone S, Kato M, Matsumoto N, Ratto GM, Guerrini R. Vetro A, et al. Among authors: koichihara r. Am J Hum Genet. 2023 Aug 3;110(8):1356-1376. doi: 10.1016/j.ajhg.2023.06.008. Epub 2023 Jul 7. Am J Hum Genet. 2023. PMID: 37421948 Free PMC article.
A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation.
Okubo M, Fujita A, Saito Y, Komaki H, Ishiyama A, Takeshita E, Kojima E, Koichihara R, Saito T, Nakagawa E, Sugai K, Yamazaki H, Kusaka K, Tanaka H, Miyake N, Matsumoto N, Sasaki M. Okubo M, et al. Among authors: koichihara r. Am J Med Genet A. 2015 May;167A(5):1100-6. doi: 10.1002/ajmg.a.36881. Epub 2015 Feb 25. Am J Med Genet A. 2015. PMID: 25712306
Perampanel in lissencephaly-associated epilepsy.
Ikemoto S, Hamano SI, Hirata Y, Matsuura R, Koichihara R. Ikemoto S, et al. Among authors: koichihara r. Epilepsy Behav Case Rep. 2019 Jan 11;11:67-69. doi: 10.1016/j.ebcr.2019.01.001. eCollection 2019. Epilepsy Behav Case Rep. 2019. PMID: 30723672 Free PMC article.
Zonisamide Therapy for Patients With Paroxysmal Kinesigenic Dyskinesia.
Matsuura R, Hamano SI, Hiwatari E, Ikemoto S, Hirata Y, Koichihara R, Kikuchi K. Matsuura R, et al. Among authors: koichihara r. Pediatr Neurol. 2020 Oct;111:23-26. doi: 10.1016/j.pediatrneurol.2020.06.017. Epub 2020 Jun 30. Pediatr Neurol. 2020. PMID: 32951651
33 results