Cause of disease linked to childhood seizures identified

Statistically, not too many new parents in New York will have an infant with infantile epileptic encephalopathy (EIEE), an early childhood seizure disorder. But when children do have it, it can contribute to intellectual and developmental delays and issues with physical movements related to cognitive processing. Even when children with EIEE are on medication, frequent and debilitating seizures may still occur as much as 50 times a day. Researchers have now identified the genetic cause of this neurological disorder.

It is possible to acquire EIEE as a result of a birth injury or structural brain malformations. It's also believed the disorder can develop because of genetic reasons. Researchers made their discovery by evaluating 14 patients with EIEE without an underlying diagnosis. By using a process known as whole-genome analysis (WGA), researchers were able to identify specific genetic mutations in all subjects, including some mutations not previously associated with EIEE.

Because the mutations were present in all patients, the medical researchers behind the study believe whole-genome analysis may be a more effective way to make an accurate clinical diagnosis of EIEE. WGA could also be used in a similar way with other genetic conditions, according to the study's authors. Researchers also note that because of improvements with the efficiency of getting results with whole-genome sequencing and a lowering of the costs associated with this testing process, it could become a standard method for diagnosing EIEE quickly and affordably.

With a birth injury case that may be linked to EIEE or similar conditions, a medical malpractice attorney may review the steps that were taken during pregnancy and when delivery occurred. Under certain circumstances, negligent behaviors may include genetic conditions that were overlooked because testing wasn't done or results weren't interpreted correctly. Actions of doctors, nurses, and lab technicians might also be considered when determining who the responsible parties may be if negligence is suspected.