Scientists have discovered a genetic cause for some cases of early infantile epileptic encephalopathy, or EIEE. The results could help doctors in Arizona and elsewhere make more efficient diagnoses of the disease.
EIEE is a childhood neurological disorder that is characterized by seizures. It occurs in approximately 1.2 of every 1,000 live births, and it usually strikes during a baby’s first few months of life. Babies with the disease can suffer as many as 50 seizures a day, and the condition usually leads to developmental delays, significant intellectual difficulties, psychomotor impairments and, in some cases, death. The condition has several known causes, including structural brain malformations and birth injuries. Doctors have also long suspected that there is a genetic basis for many EIEE cases, and the new study confirms that suspicion.
Between 2015 and 2016, researchers from the University of Utah Health recruited 14 children who were suffering from EIEE symptoms and had not been diagnosed with brain malformations or birth defects. They tested the children with a whole-genome analysis and found mutations and structural rearrangements in both genes that are known to be associated with EIEE and genes that were not previously linked with the condition. The pathogenic mutations occurred in all 14 children. Based on their findings, the authors of the study believe that genetic testing will eventually become the standard approach to diagnosing genetic EIEE cases.
When an infant suffers EIEE as the result of a birth injury that was due to a health care practitioner’s negligence, his or her parents have the right to pursue a medical malpractice lawsuit in court. If the case is successful, the parents could be awarded financial compensation for the losses that have been incuured. Parents could learn more by consulting with an attorney.
Source: Clinical Innovation, “Genetic testing used to find cause of childhood seizure disorder”, Danielle Brown, Aug. 13, 2018