منابع مشابه
Pain as a channelopathy.
Mendelian heritable pain disorders have provided insights into human pain mechanisms and suggested new analgesic drug targets. Interestingly, many of the heritable monogenic pain disorders have been mapped to mutations in genes encoding ion channels. Studies in transgenic mice have also implicated many ion channels in damage sensing and pain modulation. It seems likely that aberrant peripheral ...
متن کاملLink between pain and olfaction in an inherited sodium channelopathy.
In a major breakthrough in our understanding of human olfaction, a recent study showed that loss-of-function mutations in the voltage-gated sodium channel Nav1.7, encoded by the gene SCN9A, cause a loss of the sense of smell (congenital general anosmia) in mice and humans. These findings are of special clinical relevance because Nav1.7 was previously known for its essential role in the percepti...
متن کاملAction potential broadening in a presynaptic channelopathy
Brain development and interictal function are unaffected in many paroxysmal neurological channelopathies, possibly explained by homoeostatic plasticity of synaptic transmission. Episodic ataxia type 1 is caused by missense mutations of the potassium channel Kv1.1, which is abundantly expressed in the terminals of cerebellar basket cells. Presynaptic action potentials of small inhibitory termina...
متن کاملLong QT syndrome - a genetic cardiac channelopathy.
INTRODUCTION Long QT-syndrome (LQTS) is a genetic cardiac channelopathy characterised by a prolonged QT interval on a surface electrocardiogram (ECG), syncope, T-wave abnormalities, ventricular tachycardia of the torsades de pointes (TdPVT) type (Fig. 1) and an increased risk of sudden death [1]. LQTS has variable clinical presentation and is genetically characterised by incomplete penetrance, ...
متن کاملmytonia congenita: a muscle channelopathy
characterized by muscle stiffness and an inability of the muscle to quickly relax after voluntary contraction. although myotonia can affect any skeletal muscles, including muscles of the face and tongue, it occurs most often in the legs. myotonia causes muscle stiffness (a myotonic disorder should be considered in the differential diagnosis of a patient complaining of muscle stiffness) that can...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 2010
ISSN: 0021-9738
DOI: 10.1172/jci43158