A childhood seizure disorder that affects 1.2 in every 1,000 newborns in Texas and across the United States has been found to have a genetic cause. Early infantile epileptic encephalopathy, or EIEE, is a neurological disorder that typically appears within the first 10 days of life although some cases don’t present until the newborn is 3 months of age. Babies with EIEE experience frequent seizures that can cause developmental delays, psychomotor impairments, intellectual impairments and early death.
The condition causes seizures in infants to occur anywhere from once a week to 50 times a day. Though most cases had previously been attributed to birth injury or brain malformations, researchers suspected that the remaining cases had a genetic cause. A team of researchers at the University of Utah developed tools that uncovered the genetic cause of the disorder.
The research team studied 14 participants with EIEE who didn’t have an underlying cause of the disorder. Using whole genome analysis, researchers were able to find mutations in previously known EIEE genes. Researchers believe that whole genome analysis will soon become the standard way to clinically diagnose cases of EIEE.
Though the research team identified the genetic cause of EIEE in infants, the disorder can also be attributed to non-genetic causes, such as birth injuries, which affect approximately 6 out of every 1,000 births in the United States. Delayed or prolonged births and electric maternal injuries have been found to cause EIEE. A doctor or hospital may be held liable for birth injuries if they acted negligently. A personal injury lawyer may be able to help a family receive damages for medical care on behalf of their infant. In this case, whole genome analysis might help rule out genetic causes for EIEE and help prove that birth injury caused the neurological condition.