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channelopathies/seizures
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Pagina 1 a partire dal 218 risultati
Mechanisms of seizure-induced 'transcriptional channelopathy' of hyperpolarization-activated cyclic nucleotide gated (HCN) channels.
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Epilepsy may result from abnormal function of ion channels, such as those caused by genetic mutations. Recently, pathological alterations of the expression or localization of normal channels have been implicated in epilepsy generation, and termed 'acquired channelopathies'. Altered expression levels
Seizures and Epilepsies due to Channelopathies and Neurotransmitter Receptor Dysfunction: A Parallel between Genetic and Immune Aspects.
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Despite intensive research activity leading to many important discoveries, the pathophysiological mechanisms underlying seizures and epilepsy remain poorly understood. An important number of specific gene defects have been related to various forms of epilepsies, and autoimmunity and epilepsy have
Neonatal seizures and long QT syndrome: a cardiocerebral channelopathy?
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We identified a patient with electrophysiologically verified neonatal long QT syndrome (LQTS) and neonatal seizures in the presence of a controlled cardiac rhythm. To find a cause for this unusual combination of phenotypes, we tested the patient for mutations in seven ion channel genes associated
Ryanodine calcium channel: a novel channelopathy for seizures.
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BACKGROUND
Catecholamine-induced polymorphic ventricular tachycardia (CPVT) is one of the most severe inherited arrhythmogenic disorders, where patients clinically present with syncope or seizures.
METHODS
An 18-year-old white male with a history of mild developmental delay and CPVT, was brought to
Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.
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We recently reported mutations in the sodium channel gene SCN2A in two families with benign familial neonatal-infantile seizures (BFNISs). Here, we aimed to refine the molecular-clinical correlation of SCN2A mutations in early childhood epilepsies. SCN2A was analyzed in 2 families with probable
Coexistence of seizure episodes and symptomatic sinoatrial arrest occurring in two sisters suggests an underlying cardioneuronal channelopathy.
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Seizure or syncope? A channelopathy with cardiac and cerebral manifestation.
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A 24-year-old woman was diagnosed with long QT syndrome (LQTS) because of recurring losses of consciousness. She was implanted with a cardioverter-defibrillator, but losses of consciousness reoccurred. Genetic analysis proved LQTS. An electroencephalogram showed spontaneous generalised spikes and
Precision medicine in sodium channelopathies - Moving beyond seizure control towards disease modification.
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Seizures and arrhythmias: Differing phenotypes of a common channelopathy?
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A case of catecholaminergic polymorphic ventricular tachycardia masquerading as an intractable seizure
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A 5-year-old boy with the history of intractable seizure for the past 2 years was transferred to the emergency room for cardiopulmonary resuscitation because of the prolonged seizure and profound cyanosis. He was intubated and resuscitated by cardioversion for a bizarre shape ventricular tachycardia
Nicotinic receptor channelopathies and epilepsy.
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Characterized by sudden episodes called seizures, epilepsy was recognized long ago as a neurological disorder that can have multiple forms ranging from benign to life threatening depending upon its severity. Although several evidences indicated that genes play an important role in at least half of
Channel, neuronal and clinical function in sodium channelopathies: from genotype to phenotype.
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What is the relationship between sodium channel function, neuronal function and clinical status in channelopathies of the nervous system? Given the central role of sodium channels in the generation of neuronal activity, channelopathies involving sodium channels might be expected to cause either
Benign convulsions with mild gastroenteritis: is it associated with sodium channel gene SCN1A mutation?
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Benign convulsions with mild gastroenteritis were afebrile seizures associated with gastroenteritis in previously healthy infants or young children. It has been thought to be a continual spectrum of benign infantile convulsions because of overlapping clinical pictures. Recently, molecular genetic
Tb1, a Neurotoxin from Tityus bahiensis Scorpion Venom, Induces Epileptic Seizures by Increasing Glutamate Release.
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Here, we report the neurotoxic effects aroused by the intracerebral injection (in rats) of Tb1, which is a neurotoxin isolated from Tityus bahiensis scorpion venom. Biochemical analyses have demonstrated that this toxin is similar to the gamma toxin from T. serrulatus, which is a
[Epileptic seizures: effects on cardiac function].
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Sudden loss of consciousness can be caused by syncope or epileptic seizure, which therefore requires a diagnostic work-up including cardiological and neurological examinations. Thus, in clinical practice cooperation of these two medical specialties is common and of high relevance. Seizures may lead
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