Impaired gating of γ‐ and <scp>ε‐AChR</scp> respectively causes Escobar syndrome and fast‐channel myasthenia

20235 citationsJournal Articlegold Open Access

Authors

Xin‐Ming Shen · Mayo Clinic

Tomohiko Nakata · Nagoya University

Seiji Mizuno · Aichi Human Service Center

Issei Imoto · Aichi Cancer Center

Duygu Selcen · Mayo Clinic

Kinji Ohno · Nagoya University

Andrew G. Engel · Mayo Clinic

Abstract

Similar impairment of channel gating efficiency of a corresponding P121 residue in the acetylcholine-binding site of the AChR γ and ε subunits causes Escobar syndrome without pterygium and fast-channel CMS, respectively, suggesting that therapy for the fast-channel CMS will benefit Escobar syndrome.

Topics & Keywords

Cellular transport and secretion Ion channel regulation and function Myasthenia Gravis and Thymoma

Publication Details

Published in: Annals of Clinical and Translational Neurology

Volume 10, Issue 5, pp. 732-743

DOI: 10.1002/acn3.51756

Field-Weighted Citation Impact: 1.05

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Impaired gating of γ‐ and <scp>ε‐AChR</scp> respectively causes Escobar syndrome and fast‐channel myasthenia

Authors

Abstract

Topics & Keywords

Publication Details