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Diverse Phenotypic Manifestations in a Family with a Novel RYR2 E4107A Variant.
Hasegawa H, Tamura S, Nakajima T, Kawabata-Iwakawa R, Kobari T, Matsumoto N, Sano Y, Nishiyama M, Kurabayashi M, Kaneko Y, Nakatani Y, Ishii H. Hasegawa H, et al. Among authors: ishii h. Int Heart J. 2024;65(3):580-585. doi: 10.1536/ihj.23-652. Int Heart J. 2024. PMID: 38825499 Free article.
Novel KCNQ1 Q234K variant, identified in patients with long QT syndrome and epileptiform activity, induces both gain- and loss-of-function of slowly activating delayed rectifier potassium currents.
Nakajima T, Tamura S, Kawabata-Iwakawa R, Itoh H, Hasegawa H, Kobari T, Harasawa S, Sekine A, Nishiyama M, Kurabayashi M, Imoto K, Kaneko Y, Nakatani Y, Horie M, Ishii H. Nakajima T, et al. Among authors: ishii h. Front Physiol. 2024 Jul 19;15:1401822. doi: 10.3389/fphys.2024.1401822. eCollection 2024. Front Physiol. 2024. PMID: 39100276 Free PMC article.
4,200 results