Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The present study was undertaken in order to describe 16 more patients suffering from startle-induced epileptic seizures and to clarify further the possible therapeutic activity of benzodiazepines in this rare reflex epilepsy. The interictal and ictal electroclinical data of 16 epileptic children or adolescents have been detailed. A CT-scan was performed in 10 patients; six of them showed an atrophy of the mesial surface of one or both hemispheres ("mesial hypodensity"). Benzodiazepine was associated with the previous antiepileptic treatment in the 16 ineffectively treated patients. Clonazepam was administered in three patients; one of them was completely unresponsive and two became seizure-free for a mean of 16.5 months but complained of drowsiness or ataxia. Clobazam was administered in 13 patients; 15.4% of them were completely unresponsive, 23.1% experienced drug resistance, and 61.5% obtained a good control (91.5% reduction of the reflex seizures) for a mean of 22.75 months. In spite of a possible loss of therapeutic activity, the appearance of very few unfavorable side effects and the presence of favorable side effects ("psychomotor arousal") make clobazam therapy important in the treatment of patients suffering from startle epilepsy.
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PMID:Startle-induced epileptic seizures. 651 Mar 79

Some of the most common diseases in humans occur intermittently in people who are otherwise healthy and active. Such disorders include migraine headache, epilepsy, and cardiac arrhythmias. Because electrical signals are critical to the function of neurons, muscle cells, and heart cells, proteins that regulate electrical signaling in these cells are logical sites where abnormalities might lead to disease. All of these diseases have prominent genetic components. Difficulty in understanding these diseases arises from the complexity of the clinical phenotypes as well as from the genetic heterogeneity that is almost certain to exist. Therefore, early work in may laboratory was aimed at understanding the pathogenesis of rare disorders that are similar in their episodic nature. These disorders of muscle (the periodic paralyses), lead to attacks of weakness that occur intermittently in otherwise normal people. We, and others, have shown that hyperkalemic periodic paralysis (hyperKPP) and paramyotonia congenita (PC) result from mutations in a gene encoding a skeletal muscle sodium channel. We have also shown that hypokalemic periodic paralysis (hypoKPP) is caused by mutations in a gene encoding a voltage-gated calcium channel. The characterization of these diseases as channelopathies has served as a paradigm for other episodic disorders. One example is periodic ataxia, which results from mutations in voltage-gated potassium calcium channels. Long QT syndrome, an episodic cardiac dysrhythmia syndrome, is known to result from mutations in either voltage-gated sodium or potassium channels. We have recently mapped genes that cause a familial paroxysmal dyskinesia (non-kinesiogenic paroxysmal dystonia/choreoathetosis) in humans and a reflex epilepsy in mice. The similarities among all these disorders, including their episodic nature, precipitating factors, and therapeutic responses, are striking. Understanding gained from work in these rare monogenic episodic disorders is not only allowing characterization of the molecular and physiologic basis of these diseases, but may ultimately shed light on our understanding of the pathophysiology of more common and genetically complex disorders of the central nervous system.
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PMID:Channelopathies: ion channel disorders of muscle as a paradigm for paroxysmal disorders of the nervous system. 919 7