Genetic Decoders

For children with a suspected or known genetic epilepsy, effective management and treatment requires the expertise of providers who are particularly specialized in the intersection of neurology and genetics.

As a result, Le Bonheur’s Neuroscience Institute developed the Neurogenetics Clinic – a place where patients and families can find the most up-to-date care, resources, research and treatment for these rare disorders. Part of the Comprehensive Epilepsy Program, the clinic provides expertise in genetics with the resources of a National Association of Epilepsy Centers Level IV accredited epilepsy program.

The Neurogenetics Clinic at Le Bonheur seeks to understand the genetic causes of neurological conditions. Above, Genetic Counselor Emily Bonkowski, CGC (center), and Geneticist Heather Mefford, MD, PhD (right), examine a patient in clinic.

“Our Neurogenetics Clinic was created because many childhood neurologic conditions have a genetic base,” said Heather Mefford, MD, PhD, a pediatric geneticist in the clinic. “Getting the best, most comprehensive care and understanding the disorder in a family requires a combination of providers with genetic expertise who can interpret genetic causes and neurologists who treat the disorder.”

At the clinic, providers first determine which genetic tests may help diagnose and treat a condition, or they review and interpret existing genetic test results and what they mean for a child and their family. By seeking to understand the underlying cause for seizures, the goal is to combine neurological and developmental information, seizures and brain imaging or testing, with genetic testing to improve a child’s seizures and symptoms, says Genetic Counselor Emily Bonkowski, CGC.

“Many children have already had genetic testing, some have a diagnosis, and our approach is to be the experts and discuss what this means for the child and family and any additional testing that needs to be done,” says Bonkowski. “For patients whose genetic testing doesn’t provide an answer, we can conduct more testing and connect them to research opportunities and resources.”

The multidisciplinary team brings together genetics and neurologists to create a plan for each patient. A genetic counselor reviews family history, the child’s condition and any genetic testing. A geneticist specializing in epilepsy and neurodevelopmental conditions examines the child to identify any potential diagnoses and genetic conditions, and a neurologist with expertise in genetic conditions examines them to better understand the specific neurological issues at play and recommend treatment options. At the end of the appointment, all of the providers discuss the plan with the family and collaborate with the child’s referring neurologist.

“Our collaborative team helps gather the answers for families, but we can also provide information about research opportunities for solved and unsolved conditions,” says Pediatric Neurologist Nitish Chourasia, MD. “It’s a very exciting time in neurogenetics.”

A multidisciplinary team brings together geneticists and neurologists who have expertise in genetic neurological conditions. Pediatric specialists like Pediatric Neurologist Nitish Chourasia, MD (above), work together to identify the causes behind these conditions.

One of the goals of the Neurogenetics Clinic is to connect families to research opportunities for rare genetic disorders. The Pediatric Translational Neuroscience Initiative (PTNI), a collaboration with St. Jude Children’s Research Hospital, provides basic research, clinicals trials and multispecialty care to more rapidly delivery new therapies to children living with genetic neurologic diseases. This partnership provides connections to research opportunities for children with genetic neurologic diseases seen in the Neurogenetics Clinic.

While children seen in the clinic continue follow up with their referring neurologist, the Neurogenetics Clinic sees these children for follow up every one to five years and continue to provide updates on their genetic condition, new treatments or new research opportunities. Currently, the clinic primarily evaluates children with epilepsy, but plans to broaden the scope of genetic neurologic conditions seen in the clinic are underway.

Conditions Seen in the Neurogenetics Clinic

• Developmental and epileptic encephalopathies (DEE)
• Rare genetic epilepsies due to CHD2, SYNGAP1, SLC6A1, STXBP1, PCDH19, GNAI1, SCN2A, SCN8A, RHOBTB2, KCNQ2 and other genes
• Epilepsy without a known cause but suspected to be genetic