Current opinion in neurology
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Only two functionally validated susceptibility genes, CACNA1H and GABRD, have so far been identified in the common epilepsies using a candidate gene approach. The difficulty with the alternative statistical approach, where none of the suggested candidates has been functionally validated, may partly be due to the posited genetic architecture of the common epilepsies, such as the idiopathic generalized epilepsies. A subset of both rare and common variants from a much larger pool of susceptibility genes may contribute to disease risk. We review methods and designs for the genetic dissection of common epilepsies. ⋯ We conclude by emphasizing the importance of deeper endophenotyping using electroclinical, imaging, and molecular approaches to dissect the common epilepsies.
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This review considers the current role of magnetoencephalography in clinical epileptology. ⋯ Magnetoencephalography has been developed to a valuable noninvasive tool in clinical epileptology. The development of approaches which take into account both magnetoencephalography and electroencephalography simultaneously should provide more useful information in the future.
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Curr. Opin. Neurol. · Feb 2006
ReviewMotor learning: its relevance to stroke recovery and neurorehabilitation.
Much of neurorehabilitation rests on the assumption that patients can improve with practice. This review will focus on arm movements and address the following questions: (i) What is motor learning? (ii) Do patients with hemiparesis have a learning deficit? (iii) Is recovery after injury a form of motor learning? (iv) Are approaches based on motor learning principles useful for rehabilitation? ⋯ Motor learning mechanisms are operative during spontaneous stroke recovery and interact with rehabilitative training. For optimal results, rehabilitation techniques should be geared towards patients' specific motor deficits and possibly combined, for example, CIMT with VR. Two critical questions that should always be asked of a rehabilitation technique are whether gains persist for a significant period after training and whether they generalize to untrained tasks.
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Curr. Opin. Neurol. · Oct 2005
ReviewNeuromuscular junction autoimmune disease: muscle specific kinase antibodies and treatments for myasthenia gravis.
Some of the 20% of myasthenia gravis patients who do not have antibodies to acetylcholine receptors (AChRs) have antibodies to muscle specific kinase (MuSK), but a full understanding of their frequency, the associated clinical phenotype and the mechanisms of action of the antibodies has not yet been achieved. Moreover, some patients do not respond well to conventional corticosteroid therapy. Here we review recent clinical and experimental studies on MuSK antibody associated myasthenia gravis, and summarize the results of newer treatments for myasthenia gravis. ⋯ MuSK antibodies define a form of myasthenia gravis that can be difficult to diagnose, can be life threatening and may require additional treatments. An improved AChR antibody assay may be helpful in patients without AChR or MuSK antibodies. Clinical trials of drugs in other neuroimmunological diseases may help to guide the treatment of myasthenia gravis.