At Courtagen, we offer DNA testing that uses next generation sequencing to diagnose neurological, mitochondrial, and other disorders. Because the brain and mitochondria are so complex, many of our panels have a thousand genes or more.
After performing diagnostic testing on several thousand patients with seizure disorders, Courtagen's Clinical Team has described a variant in the ALG13 gene that directly causes infantile spasms, intellectual disability, and severe neurologic disease.
There is a longstanding adage in clinical genetics that states, "If a patient has seen as many specialists as they are years or months old, then it is time to refer them to a genetics clinic".
Ngoc Minh Le, M.D., pediatric neurologist and Medical Consultant for Courtagen Life Sciences, presents the case of a 6-year-old patient who presented with global developmental delay, seizures, GI issues, and behavioral problems. Courtagen's epiSEEK® panel revealed a mutation on the SLC6A8 gene that is consistent with Creatine Transporter Deficiency Syndrome. After being placed on high-dose creatine monohydrate, arginine, and glycine, the patient became seizure free and his GI issues improved.
There are approximately 300,000 pediatric epilepsy cases in the US, with 45,000 newly diagnosed cases each year. Understanding the etiology (i.e. underlying cause) of epilepsy is essential for properly treating patients. Until recently, the etiology of epilepsy was regarded as unknown in about 75% of patients. However, because of new developments in sequencing technologies, genetic studies are yielding new discoveries every year that are helping patients unlock the underlying cause of their disease, allowing them and their care givers to make more informed decisions about their treatment.