Tailoring treatment for Early Infant Epileptic Encephalopathy

 

Diagnosing epilepsy early is important as it means that treatment can start earlier and any associated developmental risks associated with the condition can be minimised.

Research has found that more than 50 genes are associated with Early Infant Epileptic Encephalopathy (EIEE) but routine genetic tests fail in at least half the cases to pinpoint the cause of the condition.   This means that treatments and therapies will be limited and therefore the medical practitioner’s ability to alleviate the child’s symptoms will also be limited.   But now researchers from the University of Utah have developed high tech tools which can uncover the genetic cause.  By using whole genome analysis for clinical diagnosis amongst other findings they discovered mutations in genes not previously associated with EIEE.

Dr. Ostrander at the university says. “We can now identify the genetic cause of EIEE and select medications best suited to each patient to decrease the frequency of seizures earlier and hopefully prevent developmental delays.” To read more about this research, please use the link here:

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