Ensuring Quality Care for Adults With Rare Genetic Epilepsies

Innovative Care, Patient Families | March 26, 2019 | cookchildrens

As recently as 10 years ago, many patients with difficult to control epilepsy syndromes – such as Lennox Gastaut Syndrome – had no explanation for the cause of their epilepsy. Worse than not knowing the cause, disorders such as Lennox Gastaut and other rare epilepsies had almost no treatments specifically studied for them and research was limited. Over the last decade, improvements in genetic testing have revealed a multitude of genes responsible for these rare, often devastating epilepsy syndromes. As a result, interest has grown in developing treatments, some which may potentially cure these disorders in the future.

Genetic testing has changed the way child neurologists diagnose and treat childhood epilepsy, none more than the epileptic encephalopathies and channelopathies of childhood. In these conditions, understanding the genetic diagnosis can influence treatment decisions, inform and potentially change prognosis, impact anticipatory guidance, and shape genetic counseling. These disorders typically manifest with not just intractable epilepsy, but a variety of comorbid disorders of cognition, behavior, sleep, gait and more. Many of these epilepsies now have treatments known to be most effective for seizure control, while other commonly used epilepsy drugs can exacerbate the seizures – making up-to-date knowledge of these conditions essential to quality care. While increasingly recognized and provided speciality multidisciplinary treatment in pediatric centers, these disorders remain underdiagnosed in adults and many adult providers remain uninformed on how to care for these patients as they transition to adult care. The lack of niche interest for genetic epilepsies in adulthood represents a void in the continuity of care and an opportunity for improvement with far reaching impact for those diagnosed as children and adults who remain without diagnosis.

Starting June 2019, Cook Children’s will open an Adult Genetic Epilepsy Clinic staffed by pediatric epileptologist and Director of the Genetic Epilepsy Clinic at Cook Children’s, M. Scott Perry M.D., along with adult epileptologist, Hamid Kadiwala, M.D. The foremost goal of the clinic is to provide continuity of care for these rare, difficult to treat conditions, while maintaining the level of multidisciplinary care and expertise traditionally available in the pediatric Genetic Epilepsy Clinic. Going forward, the clinic also seeks to better understand the manifestations of these conditions in adulthood – as the seizure types, associated comorbidities, and course of the disease have not been well characterized in adulthood. The clinic will accept referrals of patients diagnosed with genetic epilepsy syndromes such as Tuberous Sclerosis Complex, Dravet Syndrome, PCDH19 Epilepsy, amongst others. The clinic will meet monthly and referrals/inquiries can be made at 682-885-7259.

Learn more about Cook Children’s Genetic Epilepsy Clinic and our Adult Transitional Epilepsy Clinic.

Contributing author

Headshot of M. Scott Perry

M. Scott Perry, MD


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Contact the Jane and John Justin Neuroscience Center at Cook Children’s with your questions at 682-885-2500.

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