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New Study Shows How Genetics Play an Important Role in Diagnosis of Cerebral Palsy and Epilepsy

Genetics plays an important role in the diagnosis of cerebral palsy and epilepsy, according to a new discovery by a team of physicians and scientists led by Barrow Neurological Institute at Phoenix Children’s Hospital.

The team found that mutations — or misspellings — in the genetic code of a specific gene, called FRRS1L, leads to cerebral palsy and seizures in some children. Michael Kruer, MD, director of the Pediatric Movement Disorders Program at Barrow Neurological Institute at Phoenix Children’s Hospital, is the lead author of the study, published in this month’s edition of the American Journal of Human Genetics.

Cerebral palsy is a disorder of movement and/or posture that affects the developing brain. For many years, children with cerebral palsy were thought to develop the condition only as the result of lack of oxygen or complications of extreme prematurity. But current research, including the work from Dr. Kruer’s lab, shows that genetics may also play a role in the movement disorder.

“The identification of mutations in FRRS1L as an important new cause of cerebral palsy and epilepsy represents a valuable step forward toward personalized medicine for neurodevelopmental disorders,” said Dr. Kruer. “The discovery will help change the way we think about cerebral palsy.”

For this study, Dr. Kruer and his laboratory team at Phoenix Children’s worked alongside researchers from Yale University, Sick Kids Hospital in Toronto, Children’s Hospital of Philadelphia, the University of North Dakota, the United Kingdom and the Netherlands. The international research group discovered that mutations in FRRS1L disrupted normal brain development and led to both dyskinetic cerebral palsy and epilepsy in affected children.

Many times, the reason for a child’s neurodevelopmental disorder like cerebral palsy may be clear. But for some families, the answers are more elusive despite highly-sophisticated medical evaluations. Failing to understand the cause of a child’s condition may make it more difficult for doctors to treat their patients effectively and leave families struggling to understand their child’s condition. 

“Our findings, and those of our colleagues, indicate that as many as one-third of cerebral palsy cases may be genetic in nature,” Dr. Kruer said. “Mutations in FRRS1L represent an important new cause of cerebral palsy. We believe this discovery and others like it will point us to completely new treatment approaches that don’t just focus on controlling symptoms, but on addressing the abnormal brain development at the heart of this condition,” Kruer indicated. 

For more information on the Pediatric Movement Disorders Program at Barrow at Phoenix Children’s, visit here.

About Phoenix Children’s Hospital

Phoenix Children’s Hospital is Arizona’s only children’s hospital that is ranked in U.S. News & World Report’s Best Children’s Hospitals. Phoenix Children's provides world-class inpatient, outpatient, trauma, emergency and urgent care to children and families in Arizona and throughout the Southwest. As one of the largest children’s hospitals in the country, Phoenix Children’s provides care across more than 75 pediatric specialties. The Hospital is poised for continued growth in quality patient care, research and medical education.

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