Question
What are the epilepsy syndromes/types of seizures closest to realizing research breakthroughs?
I'm curious if there is any consensus in the field regarding where research should be focused. Epilepsy is a broad category of diseases. Is there one that is closer to being "solved" mechanistically, and thus closer to bringing new treatments/prevention strategies to the clinic? Thank you for any thoughts your can contribute!
All Answers (9)
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I think that dravet syndrome is the prototype.
We know the natural course of the syndrome, the genetic background, and we can use propertly aed in these patients.
Maybe in 2-3 years we can use genetic therapy in patients with dravet syndrome and scn1a truncating mutations in order to minimaze the effect of mutation. -
1% of the world's population has epilepsy as many as breast and lung cancer,research into the cancers of lung and breat are tremendous but little research is done in epilepsy especially in the idiopathic group and treatment/new drugs.Intergrating structural and physiology ie EEG research is lacking and acess to the bottom billions to portable,mobile diagnostic machines are in some centers unheard of.
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Perhaps symptomatic epilepsy. Recent findings of genetic risk factors for development of epilepsy after brain lesions suggests that certain genes, such as CAMSAP1L1, ERBB4, and DSCAM, and pathways involving those genes, such as neurite outgrowth and synapse formation, are involved in epilepsy. Drugs inhibiting the function of these genes or pathways may be designed for administration to people who suffer brain insults, thus preventing or reducing the chance of later developing epilepsy.
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It's difficult to say which areas are close to seeing major breakthroughs as this phenomenon typically can't be foreseen. However, it's clear that this can't happen unless new and different approaches and mentalities are introduced. Using the same, accepted methods (e.g. animal models) that have been in use for decades is unlikely to produce anything game-changing at this stage. Lab research and drug discovery/development will continue to be stagnant until 1) significant funding is directed toward (radically) different projects and individuals, and 2) these grants are NOT reviewed by the small group of people who are opinion leaders in the epilepsy field.
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Regarding the clinical aspect of the disease, pharmacoresistance (wich concerns about 30% of epileptic patients) is of great importance. I think research is making some progress towards finding new molecules able to be benificial in untractable epilepsies (such as levetiracetam). Concerning the prevention... that's another story!
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In my opinion, the research should still focus on the molecular mechanisms of seizures/epilepsy and genetic/molecular characteristics of the people. I think, these days, epileptic syndromes are quite well characterized, but we still don't know why a child respond to a certain AED and others not.
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I am a natural product chemist involved in ethnobotany-based drug discovery. I spent part of my time in the field learning from local communities the significance and subsequent treatment of diseases.
I agree with Braxton Norwood that we need to “think outside the box”, avoiding any pre-conceived/fixed ideas. To this end, there are two ways, among others, that might lead to new discoveries: (1) Serendipity. There are many drugs available in the market. The discovery of the anticonvulsant effects of statins is a good example of unexpected biological activities; (2) Traditional knowledge. There are many unexploited information in this area. In this case, we need to have a holistic approach, putting together rather than taking apart, integration rather than reduction. It means changing our way of thinking. -
The major issue of concern in current management of epilepsy is the whole bunch of adverse effects produced by conventional AEDs. Even the new add on drugs also suffer from similar adverse effects. Hence, research should be focused on dietary or other adjuncts which can reduce the adverse effects. Best adjunct reported till now is Spirulina. regular consumption of spirulina will reduce the adverse effects caused by phenytoin, carabamazepine and sodium valproate.
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Another adjunct therapy for epilepsy would be our essential oil. In our traditional medicine and culture, I said previously that aerial parts of the plant are burnt, and patients are asked to inhale the smoke, for the management of convulsions. We have obtained really good results in humans with the essential oil. When seizures appear, patients just inhale the oil put in the vial, and in most cases, it has been found that the seizures stop. We have now more than one hundred patients bringing a small vial in their pockets and inhale the oil if they feel the convulsions are about to appear.
Scientifically, we demonstrated that essential oils have good effects in a pentylene tetrazole (PTZ) induced convulsions in rats. This is aromatherapy. Moreover, they had effects on neurite outgrowth. The essential oil does not have the side effects of common synthetic drugs.
The advantages of smoke-based remedies are rapid delivery to the brain, more efficient absorption by the body and lower costs of production, especially for poor people in least developed countries like Madagascar.