Résumé
Progressive myoclonic epilepsies (PMEs) are a group of rare genetic diseases. Common clinical manifestations include action myoclonus often with generalized tonic-clonic seizures, cognitive impairment and other focal neurological deficits. PMEs generally respond poorly to antiseizure drugs and have a poor overall prognosis. Disorders that can cause PMEs include Unverricht-Lundborg disease, Lafora disease, neuronal ceroid lipofuscinosis, myoclonic epilepsy with fragmented red fiber syndrome, sialic acidosis, dentate erythronucleus pallidus Lewy body atrophy, etc. The current treatments for PMEs include drug therapy, neuromodulatory therapy, dietary therapy, anti-inflammatory and immunomodulatory therapy, enzyme replacement therapy and gene therapy. This article reviews the currently known treatments for PMEs, and provides ideas for better research and exploration of treatments for PMEs.
Résumé
Epilepsy is one of the most common and disabling chronic neurological diseases. About 70% of patients with epilepsy can be fully controlled by available anti-seizure medications, while the remaining 20%-30% are drug-resistant. Drug-resistant epilepsy is also known as refractory epilepsy, and refractory epilepsy usually requires a combination of anti-seizure medications. A reasonable combination of anti-seizure medications can reduce the frequency or even the freedom of seizures. To this end, this article summarized the general principles of anti-seizure medications combination therapy, tolerance and drug interaction, combination and synergism in human studies, and the application of non-ionic anti-seizure medications in combination therapy of refractory epilepsy by reviewing the literature, to improve clinicians′ understanding of combination therapy with anti-seizure medications for refractory epilepsy.