Emerging insights into the genesis of epilepsy
Article Abstract:
Researchers are seeking more information about the cellular and molecular mechanisms of epileptogenesis, thus obtaining the basis for new therapies and prevention. It may even be possible eventually to cure epilepsy. Development of circuitry with recurrent excitatory synapses is starting to be seen as a common theme in many experimental models, but there is still uncertainty about the precise extent to which these connections play a role in the epileptogenesis. A number of questions must be considered if, as appears likely, the axonal sprouting in one or more sites in the nervous system plays a role in the epileptic phenotype.
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 1999
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Protease inhibitor implicated
Article Abstract:
The progressive myoclonic epilepsy of the Unverricht-Lundborg type (EPM1) is caused by a mutation in a gene encoding cystatin B that suppresses cysteine protease activity. The gene contains 175 kilobases and is present on the human chromosome 21. Cystatin B is a protein that is present in many cells and tissues, such as the brain. Individuals with EPM1 have extremely low levels of cystatin B mRNA, as compared to asymptomatic and unaffected individuals. Affected individuals from different families show different mutations, while some families show no mutation.
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 1996
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Did radicals strike Lou Gehrig?
Article Abstract:
A familial variant of amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, may be associated with abnormally high levels of superoxide radicals due to a defect in the cytosolic superoxide dismutase 1 (SOD1) gene. Daniel R. Rosen and colleagues investigated the possible causes of the motor neuron death that characterizes ALS. They found that in some ALS cases the SOD1 genetic defect affected levels of the SOD enzyme, which in turn affected the conversion of superoxide into hydrogen peroxide plus dioxygen.
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 1993
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