scholarly journals A sodium channel knockin mutant (NaV1.4-R669H) mouse model of hypokalemic periodic paralysis

2011 ◽  
Vol 121 (10) ◽  
pp. 4082-4094 ◽  
Author(s):  
Fenfen Wu ◽  
Wentao Mi ◽  
Dennis K. Burns ◽  
Yu Fu ◽  
Hillery F. Gray ◽  
...  
Keyword(s):  
Mouse Model ◽  
Sodium Channel ◽  
Periodic Paralysis ◽  
Hypokalemic Periodic Paralysis

Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis

2001 ◽  
Vol 50 (3) ◽  
pp. 417-420 ◽  
Author(s):  
Sa�d Bendahhou ◽  
Theodore R. Cummins ◽  
Robert C. Griggs ◽  
Ying-Hui Fu ◽  
Louis J. Pt�?ek
Keyword(s):  
Sodium Channel ◽  
Periodic Paralysis ◽  
Hypokalemic Periodic Paralysis ◽  
Channel Inactivation ◽  
Sodium Channel Inactivation

Sodium channel gene mutations in hypokalemic periodic paralysis: An uncommon cause in the UK

Neurology ◽  
2001 ◽  
Vol 57 (7) ◽  
pp. 1323-1325 ◽  
Author(s):  
N. P. Davies ◽  
L. H. Eunson ◽  
M. Samuel ◽  
M. G. Hanna
Keyword(s):  
Sodium Channel ◽  
Gene Mutations ◽  
Periodic Paralysis ◽  
Hypokalemic Periodic Paralysis ◽  
Channel Gene ◽  
Sodium Channel Gene ◽  
The Uk

A novel sodium channel mutation in a family with hypokalemic periodic paralysis

Neurology ◽  
1999 ◽  
Vol 53 (9) ◽  
pp. 1932-1932 ◽  
Author(s):  
D. E. Bulman ◽  
K. A. Scoggan ◽  
M. D. van Oene ◽  
M. W. Nicolle ◽  
A. F. Hahn ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Periodic Paralysis ◽  
Hypokalemic Periodic Paralysis ◽  
Channel Mutation ◽  
Sodium Channel Mutation

scholarly journals Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current

2000 ◽  
Vol 97 (17) ◽  
pp. 9549-9554 ◽  
Author(s):  
K. Jurkat-Rott ◽  
N. Mitrovic ◽  
C. Hang ◽  
A. Kouzmenkine ◽  
P. Iaizzo ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Periodic Paralysis ◽  
Voltage Sensor ◽  
Hypokalemic Periodic Paralysis

scholarly journals A calcium channel mutant mouse model of hypokalemic periodic paralysis

2012 ◽  
Vol 122 (12) ◽  
pp. 4580-4591 ◽  
Author(s):  
Fenfen Wu ◽  
Wentao Mi ◽  
Erick O. Hernández-Ochoa ◽  
Dennis K. Burns ◽  
Yu Fu ◽  
...  
Keyword(s):  
Mouse Model ◽  
Calcium Channel ◽  
Mutant Mouse ◽  
Periodic Paralysis ◽  
Hypokalemic Periodic Paralysis

Morphologic alteration in the muscles of patients with hypokalemic periodic paralysis or myopathy

1990 ◽  
Vol 48 (3) ◽  
pp. 222-223
Author(s):  
T. Shimizu ◽  
Y. Muranaka ◽  
I. Ohta ◽  
N. Honda
Keyword(s):  
Clinical Manifestations ◽  
Quadriceps Muscle ◽  
Honeycomb Structure ◽  
Periodic Paralysis ◽  
Ultrastructural Changes ◽  
Hypokalemic Periodic Paralysis ◽  
Electron Microscopic ◽  
Tubular Aggregates ◽  
Hypokalemic Myopathy ◽  
Transmission Electron

There have been many reports on ultrastructural alterations in muscles of hypokalemic periodic paralysis (hpp) and hypokalemic myopathy(hm). It is stressed in those reports that tubular structures such as tubular aggregates are usually to be found in hpp as a characteristic feature, but not in hm. We analyzed the histological differences between hpp and hm, comparing their clinical manifestations and morphologic changes in muscles. Materials analyzed were biopsied muscles from 18 patients which showed muscular symptoms due to hypokalemia. The muscle specimens were obtained by means of biopsy from quadriceps muscle and fixed with 2% glutaraldehyde (pH 7.4) and analyzed by ordinary method and modified Golgimethod. The ultrathin section were examined in JEOL 200CX transmission electron microscopy.Electron microscopic examinations disclosed dilated t-system and terminal cistern of sarcoplasmic reticulum (SR)(Fig 1), and an unique structure like “sixad” was occasionally observed in some specimens (Fig 2). Tubular aggregates (Fig 3) and honeycomb structure (Fig 4) were also common characteristic structures in all cases. These ultrastructural changes were common in both the hypokalemic periodic paralysis and the hypokalemic myopathy, regardless of the time of biopsy or the duration of hypokalemia suffered.

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