نتایج جستجو برای: scn4a

تعداد نتایج: 166  

Journal: :Reproductive Biology and Endocrinology 2006
Jennifer L Juengel

Sirs: Myotonia is a clinical phenomenon consisting of uncontrolled temporary muscle stiffness after voluntary or evoked muscle contractions [1]. It is a cardinal symptom in non-dystrophic myotonias, including chloride and sodium channelopathies. Myotonia typically occurs after a period of rest and decreases with continuing exercise, commonly referred to as the warm-up phenomenon. This is in con...

Journal: :Neurology 2004
T M Miller M R Dias da Silva H A Miller H Kwiecinski J R Mendell R Tawil P McManis R C Griggs C Angelini S Servidei J Petajan M C Dalakas L P W Ranum Y H Fu L J Ptácek

BACKGROUND Periodic paralyses and paramyotonia congenita are rare disorders causing disabling weakness and myotonia. Mutations in sodium, calcium, and potassium channels have been recognized as causing disease. OBJECTIVE To analyze the clinical phenotype of patients with and without discernible genotype and to identify other mutations in ion channel genes associated with disease. METHODS Th...

2011
Torben Clausen Ole Bækgaard Nielsen Johannes D. Clausen Thomas Holm Pedersen Lawrence J. Hayward

In patients with hyperkalemic periodic paralysis (HyperKPP), attacks of muscle weakness or paralysis are triggered by K(+) ingestion or rest after exercise. Force can be restored by muscle work or treatment with β(2)-adrenoceptor agonists. A missense substitution corresponding to a mutation in the skeletal muscle voltage-gated Na(+) channel (Na(v)1.4, Met1592Val) causing human HyperKPP was targ...

2016
Yuanyuan Zhao Qiaobing Sun Zhipeng Zeng Qianqian Li Shiyuan Zhou Mengchen Zhou Yumei Xue Xiang Cheng Yunlong Xia Qing Wang Xin Tu

BACKGROUND In the initiation and maintenance of arrhythmia, inflammatory processes play an important role. IL-2 is a pro-inflammatory factor which is associated with the morbidity of arrhythmias, however, how IL-2 affects the cardiac electrophysiology is still unknown. METHODS In the present study, we observed the effect of IL-2 by qRT-PCR on the transcription of ion channel genes including S...

Journal: :Circulation 2004
Sabrina Le Bouter Aziza El Harchi Céline Marionneau Chloé Bellocq Arnaud Chambellan Toon van Veen Christophe Boixel Bruno Gavillet Hugues Abriel Khai Le Quang Jean-Christophe Chevalier Gilles Lande Jean J Léger Flavien Charpentier Denis Escande Sophie Demolombe

BACKGROUND The basis for the unique effectiveness of long-term amiodarone treatment on cardiac arrhythmias is incompletely understood. The present study investigated the pharmacogenomic profile of amiodarone on genes encoding ion-channel subunits. METHODS AND RESULTS Adult male mice were treated for 6 weeks with vehicle or oral amiodarone at 30, 90, or 180 mg x kg(-1) x d(-1). Plasma and myoc...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید