A new genetic mutation has been found that may be
causing deadly seizure disorders in infants and young children. Epileptic
seizures are caused by neurons firing, which create bursts of electrical
activity in the brain. This study focused on developmental epilepsies,
specifically early myoclonic encephalopathy, Ohtara syndrome, and infantile spasms. Developmental epilepsies occur after birth, in some cases only hours after, and can be fatal. Individuals who survive the seizures typically suffer from developmental disabilities, autism, and seizures for the remainder of their lives.
The
gene containing the mutation, salt-inducible kinase 1 (SIK1), has been found to
play a role in gene and protein interactions in neurons that help to cause
seizures. SIK1 regulates another gene, myocyte-specific enhancer factor 2C (MEF2C), which is known
to be associated with severe seizures. Cellular machinery in neurons are
interfered by mutated versions of these genes and hinder proper development.
This study is vital to those who have children
who suffer from developmental epilepsies. It can help to identify which
patients may benefit from specific treatments and which will not. It is
critical to identify which individuals will not benefit from treatment, as the
drug used most often to treat development epilepsy is Adrenocorticotropic hormone (ACTH). ACTH is very expensive and can lead to severe side effects, and is only effective in about forty percent of cases. This study will improve treatment of patients suffering from developmental epilepsy and hopefully save those, who would otherwise not benefit from the treatment, from the drugs side effects.
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I found this article to be very interesting simply because gene mutations are known to cause numerous problems but it seems like more keep being found as technology gets better and better. Being able to identify which children will be prone to seizures is also very important as it could save lives.
ReplyDeleteCed Howard is correct. It is vital to gain an understanding of which child will tend to suffer from seizures. Seizures can affect one way of living in so many ways.
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ReplyDeleteI completely agree with you Ced Howard. It is scary to consider how many more lives are affected from something as small as a gene mutation. Hopefully with technology improving and our understanding of these gene mutations treatments and cures for various diseases can be found.
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