Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Cav1.1 mutation

C Fan, F Lehmann-Horn, MA Weber, M Bednarz… - Brain, 2013 - academic.oup.com
We studied a two-generation family presenting with conditions that included progressive
permanent weakness, myopathic myopathy, exercise-induced contracture before …

Leaky sodium channels from voltage sensor mutations in periodic paralysis, but not paramyotonia

DG Francis, V Rybalchenko, A Struyk, SC Cannon - Neurology, 2011 - AAN Enterprises
Background: Hypokalemic periodic paralysis (HypoPP) is associated with mutations in either
the CaV1. 1 calcium channel or the NaV1. 4 sodium channel. Some NaV1. 4 HypoPP …

Calcium-mediated cellular signals: a story of failures

E Carafoli - Trends in Biochemical Sciences, 2004 - cell.com
The field of cellular calcium signaling has had a curious history. After its discovery∼ 120
years ago–it was a revolutionary discovery if ever there was one–it remained, essentially …

Effects of mutations causing hypokalaemic periodic paralysis on the skeletal muscle L‐type Ca2+ channel expressed in Xenopus laevis oocytes

JA Morrill, SC Cannon - The Journal of Physiology, 1999 - Wiley Online Library
1 A truncated form of the rabbit α1S Ca2+ channel subunit (α1SΔC) was expressed with the
β1b, α2δ and γ auxiliary subunits in Xenopus laevis oocytes. After 5–7 days, skeletal muscle …

Calcium channelopathies: structural insights into disorders of the muscle excitation–contraction complex

R Pancaroglu, F Van Petegem - Annual review of genetics, 2018 - annualreviews.org
Ion channels are membrane proteins responsible for the passage of ions down their
electrochemical gradients and across biological membranes. In this, they generate and …

Periodic paralysis: understanding channelopathies

F Lehmann-Horn, K Jurkat-Rott, R Rüdel - Current neurology and …, 2002 - Springer
Familial periodic paralyses are typical channelopathies (ie, caused by functional
disturbances of ion channel proteins). The episodes of flaccid muscle weakness observed in …

Electrophysiological properties of the hypokalaemic periodic paralysis mutation (R528H) of the skeletal muscle α 1S subunit as expressed in mouse L cells

P Lapie, C Goudet, J Nargeot, B Fontaine, P Lory - FEBS letters, 1996 - Wiley Online Library
Hypokalaemic periodic paralysis (HypoPP) is an autosomal dominant muscle disease which
has been linked to point mutations in the skeletal muscle L‐type calcium channel α 1 subunit …

Ion channels and ion transporters of the transverse tubular system of skeletal muscle

K Jurkat-Rott, M Fauler, F Lehmann-Horn - Journal of Muscle Research & …, 2006 - Springer
This review focuses on the electrical properties of the transverse (T) tubular membrane of
skeletal muscle, with reference to the contribution of the T-tubular system (TTS) to the …

[HTML][HTML] Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family

T Ke, CR Gomez, HE Mateus, JA Castano… - Journal of human …, 2009 - nature.com
Hypokalaemic periodic paralysis (HypoPP) is an autosomal dominant disorder, which is
characterized by periodic attacks of muscle weakness associated with a decrease in the …

[HTML][HTML] Calcium currents and transients of native and heterologously expressed mutant skeletal muscle DHP receptor α1 subunits (R528H)

K Jurkat-Rott, U Uetz, U Pika-Hartlaub, J Powell… - FEBS letters, 1998 - Elsevier
Rabbit cDNA of the α1 subunit of the skeletal muscle dihydropyridine (DHP) receptor was
functionally expressed in a muscular dysgenesis mouse (mdg) cell line, GLT. L-type calcium …