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Genetic tests reveal cause of seizure disorder in children

Early infantile epileptic encephalopathy is a neurological disorder occurring in 1.2 out of every 1,000 live births, and it is characterized by seizures that begin around the first few months of life. Children with EIEE experience developmental delays and impaired psychomotor learning. North Carolina residents should know that recent tests have uncovered the genetic cause behind this disorder.

Non-genetic causes of EIEE have long been known, such as structural brain malformations and birth injuries, but genetic ones were previously unidentified. Now, a team from University of Utah Health has been able to pinpoint some of these genetic causes with whole-genome sequencing.

Researchers analyzed 14 patients with EIEE who did not have an underlying diagnosis even in spite of extensive tests. With a whole-genome analysis, they identified several disease-causing or possibly disease-causing mutations and structural rearrangements in EIEE genes. These mutations were in genes previously not associated with EIEE.

Researchers believe that the whole-genome analysis can reduce the time and cost it takes to diagnose EIEE and other genetic conditions like leukodystrophy and skeletal dysplasia. They are confident that with the continual cost and speed improvements of whole-genome sequencing, it may become the standard procedure for diagnosis.

As mentioned above, EIEE can be caused by birth injuries. This cause could be attributed to the actions of a negligent doctor, thus forming the basis for a malpractice claim. In such cases, parents may want a lawyer to evaluate their case, request an inquiry with the local medical board and hire third-party experts to determine the extent of the injury. A condition like EIEE will mean continued treatments and medication, but a successful claim might cover these and other expenses. The lawyer may handle all negotiations.

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