Rev Neurol France
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Review
[What organisation to improve health care management of patients with partial refractory epilepsy?].
Epilepsy is a common and serious neurological condition. It may have severe psychological, cognitive and social consequences. ⋯ Two models of management has been described: epilepsy specialist nurse-based liaison service between primary and secondary/tertiary care and department specialized in epilepsy. These types of service are complementary but it is difficult to determine the best model the currently available results.
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Review
[Surgical treatment of epilepsy: outcome of various surgical procedures in adults and children].
Surgical treatment of drug-resistant epilepsy is being performed in a growing number of adults and children. The objective of this report is to review and evaluate the published literature related to the outcome of epilepsy surgery. Surgical procedures were classified as "curative", which included temporal and extratemporal resections, as well as hemispherotomy and stereotactic radiosurgery, and as "palliative", which mainly included callosotomy and multiple subpial transections. ⋯ Reported percentages of patients who benefit from multiple subpial transection, varies between 50 and 70 percent. In conclusion, our report shows that temporal resection is an efficient and scientifically validated treatment of drug-resistant temporal lobe epilepsy. Extra-temporal resections, hemispherotomy, and palliative surgery often allow cure of epilepsy, or a decrease of seizure frequency, however, prospective studies of these surgical procedures are needed.
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Review
[Genetic of diseases by abnormal functioning of the skeletal muscle-calcium releasing complex].
Myoplasmic calcium homeostasis is an essential feature of skeletal muscle contraction. The calcium mobilisation complex (CMC) located at the level of the triadic junction plays a major role for the regulation of calcium fluxes between extra-cellular, cytoplasmic and intra-cellular compartments. The ryanodine receptor type I (RYR1), which is located at the level of the terminal cisternae of the sarcoplasmic reticulum is a key component of the CMC. ⋯ Functional role of these two domains is still unclear. Mutations responsible for congenital myopathies mainly mapped to the C terminal region of RYR1 that form the transmembrane calcium channel. Functional studies of the RYR1 mutations have shown that MHS mutations were mainly associated with an alteration of the calcium fluxes in response to caffeine or halothane while CCD mutations would result in a leaky RYR1 channel or would alter the Excitation-Contraction coupling at the level of the CMC.
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To determine local control and overall survival rates of 14 patients treated for a grade III or IV glioma relapsing in a previously irradiated area and re-irradiated by stereotactic radiosurgery. ⋯ Radiosurgery of relapsed primitive high-grade brain tumors is efficient and overall survival rates were encouraging.
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Review
[Congenital myasthenic syndromes: phenotypic expression and pathophysiological characterisation].
Congenital Myasthenic Syndromes (CMS) are a heterogeneous group of diseases caused by genetic defects affecting neuromuscular transmission. The twenty five past Years saw major advances in identifying different types of CMS due to abnormal presynaptic, synaptic, and postsynaptic proteins. CMS diagnosis requires two steps: 1) positive diagnosis supported by myasthenic signs beginning in neonatal period, efficacy of anticholinesterase medications, positive family history, negative tests for anti-acetylcholine receptor (AChR) antibodies, electromyographic studies (decremental response at low frequency, repetitive CMAP after one single stimulation); 2) pathophysiological characterisation of CMS implying specific studies: light and electron microscopic analysis of endplate (EP) morphology, estimation of the number of AChR per EP, acetylcholinesterase (AChE) expression, molecular genetic analysis. ⋯ Most patients respond favourably to anticholinesterase medications or to 3,4 DAP which is effective not only in presynaptic but also in postsynaptic CMS. Specific therapies for slow channel CMS are quinidine and fluoxetine that normalize the prolonged opening episodes. Clinical benefits derived from the full characterisation of each case include genetic counselling and specific therapy.