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185 Possible Causes for CLC 1, channel

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  • Hyperkalemic Periodic Paralysis

    This paper reviews the capacity of Na( ) K( )ATPase pumps, KATP and ClC-1 Cl(-) channels in improving membrane excitability during muscle activity and how using these three[ncbi.nlm.nih.gov] […] structure of this channel causing its abnormal function.[ncbi.nlm.nih.gov] […] as well as channel malfunction in the periodic paralyses.[ncbi.nlm.nih.gov]

  • Myotonia Congenita

    Several disease-related mutations, however, have been shown to yield functional CLC-1 channels with no detectable gating defects.[ncbi.nlm.nih.gov] INTRODUCTION: Myotonia congenita (MC) is caused by congenital defects in the muscle chloride channel CLC-1.[ncbi.nlm.nih.gov] In contrast to normal ClC-1 channels that deactivate upon hyperpolarization, functional expression of G499R ClC-1 yielded a hyperpolarization-activated chloride current when[ncbi.nlm.nih.gov]

  • Lamotrigine

    METHODS: Dissected muscles were rendered myotonic by ClC-1 channel inhibition.[ncbi.nlm.nih.gov] BACKGROUND: Lamotrigine is a sodium channel blocking agent that is widely prescribed for treatment of seizure.[ncbi.nlm.nih.gov] CONCLUSION: While classically thought to act at sodium channels, lamotrigine also modulates the activity of the P/Q-type calcium channel, making it a candidate for precision[ncbi.nlm.nih.gov]

  • Honey

    Clin Cardiol. 2009 Nov;32(11):E52-4. doi: 10.1002/clc.20438.[ncbi.nlm.nih.gov] Abstract Tertiapin (TPN), a short peptide isolated from the venom of the honey bee, is a potent and selective blocker of the inward rectifier K (Kir) channel Kir3.2.[ncbi.nlm.nih.gov] Grayanotoxin is a naturally occurring sodium channel toxin that causes life-threatening bradycardia, hypotension, and altered mental status.[ncbi.nlm.nih.gov]

  • Paramyotonia Congenita

    ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation. J. Physiol. (Lond.). 2015; 593(18):4181-99.[invitae.com] Analysis of single-channel data reveals that mutant channels inactivate normally from closed states, but poorly from the open state.[ncbi.nlm.nih.gov] The ClC-1 protein is composed of two subunits.[jcgo.org]

  • Lymphangioma Circumscriptum

    Clinically, cutaneous lymphangioma circumscriptum (CLC) ( Figure 1 A and Figure 2 A) should be differentiated from other vascular and lymphatic lesions, such as hemangiomas[jamanetwork.com] The lymphatic channels were seen in deeper layers along with lymphocytic aggregates.[ncbi.nlm.nih.gov] BACKGROUND: Lymphangioma circumscriptum (LC) is a benign dilation of lymph channels localized to the skin and subcutaneous tissues.[ncbi.nlm.nih.gov]

  • Generalized Myotonia of Thomsen

    […] of Korean patients with myotonia congenita. ( 24625573 ) Ha K....So I. 2014 31 Functional characterization of ClC-1 mutations from patients affected by recessive myotonia[malacards.org] It follows that an increasing number of human diseases have been associated with malfunctioning ion channels, many of which have a genetic component.[books.google.de] Which channel has stronger voltage dependence, ClC-1 or voltage gated Na channel?[brainscape.com]

  • Nephrotic Syndrome

    -1: cardiotrophin-like cytokine 1; CMV: cytomegalovirus; CNIs: calcineurin inhibitors; CNS: congenital nephrotic syndrome; DVT: deep vein thrombosis; ENaC: epithelial sodium[ncbi.nlm.nih.gov] After the onset of proteinuria, mice exhibit increased urinary serine protease activity that leads to the activation of the epithelial sodium channel (ENaC) and sodium retention[ncbi.nlm.nih.gov] This drains into larger channels (collecting ducts) which drain into the inner part of the kidney (the renal pelvis).[patient.info]

  • Myotonic Dystrophy

    Erythromycin has been used successfully in patients with gastric issues. [21] Altered splicing of the muscle-specific chloride channel 1 (ClC-1) has been shown to cause the[en.wikipedia.org] The biophysical properties of the mutant Nav1.4 channels were evaluated by whole-cell voltage-clamp analysis of heterologously expressed mutant channel in tsA201 cells.[ncbi.nlm.nih.gov] That gene normally produces a protein that controls chloride channels in skeletal muscle fibre cells.[britannica.com]

  • Torsades De Pointes

    Clin Cardiol. 2009 Jun;32(6):E79-82. doi: 10.1002/clc.20248.[ncbi.nlm.nih.gov] Moreover, anti-Ro/SSA-positive sera exhibited high reactivity with a peptide corresponding to the hERG-channel pore-forming region.[ncbi.nlm.nih.gov] Blockade of hERG channels is the primary cause of TdP, but blockade/activation of other channels can also be torsadogenic.[ncbi.nlm.nih.gov]

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