Na(V)1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery

Groome, James R.; Lehmann-Horn, Frank; Fan, Chunxiang; Wolf, Markus; Winston, Vern; Merlini, Luciano; Jurkat-Rott, Karin

Erstveröffentlichung

2014

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Wissenschaftlicher Artikel

Authors

Groome, James R.

Lehmann-Horn, Frank

Fan, Chunxiang

Wolf, Markus

Winston, Vern

et al.

Faculties

Medizinische Fakultät

Institutions

UKU. Klinik für Neurologie
Neurophysiologie
Zentrum für seltene Erkrankungen (ZSE)
Neuromuskuläres Zentrum der Universität Ulm (NMZ Ulm, NMZU)

Published in

Brain ; 137 (2014), 4. - S. 998-1008. - ISSN 0006-8950. - eISSN 1460-2156

Link to publication

https://dx.doi.org/10.1093/brain/awu015

Funding information

NIH [1R15NS064556-01, P20 RR016454]
non-profit Else-Kroner-Fresenius foundation
German BMBF Ministry for the IonNeurOnet project
DGM
Eva Luise Kohler Stiftung

Keywords

hypokalaemic periodic paralysis; molecular dynamics; omega pore current; sodium channel; voltage sensor; voltage-sensor mutations; gating pore currents; sodium-channel; fast inactivation; ion permeation; domains; muscle; channelopathies; depolarization; weakness

Dewey Decimal Group

DDC 610 / Medicine & health

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