Genetic Epilepsy Clinic
New technology and better understanding of the genetic origin of epilepsy is providing unprecedented insight into the disorder. Testing may now reveal causes of epilepsy in previously undiagnosed patients, resulting in improved treatment and a more precise prognosis.
New genetic syndromes are increasingly discovered and providers will more frequently encounter genetic mutations of "unknown significance." These mutations require an expertise in both genetics and neurology to understand the implication of the test results on the care of the patient.
In response to this need, M. Scott Perry, M.D., now leads the Genetic Epilepsy Clinic team at Cook Children's, along with metabolic geneticist, Alice Basinger, M.D. Our team can review your child's history, review existing testing, recommend additional evaluation, establish diagnosis, provide genetic counseling and help establish a treatment plan specifically designed for your child. We can also help determine if your child may benefit from available research studies that could help improve their condition.
- With epilepsies caused by genetic mutations.
- Who had confusing/unclear test results for genetic epilepsy syndromes.
- Who fit the phenotypes of well-known genetic epilepsy, but whose testing was negative.
- Sodium channel disorders (Dravet syndrome, GEFS+) – Sodium channel disorders represent a spectrum of epilepsy syndromes ranging from intermittent febrile seizures to the most severe phenotype of Dravet syndrome. Dravet syndrome is characterized by febrile seizures in infancy (often febrile status epilepticus), which evolves to unprovoked seizures and cognitive decline. Early diagnosis may prevent unnecessary testing and guide treatment to avoid medications which exacerbate this syndrome.
- Potassium channel disorders (KCNQ2/3) – Potassium channel disorders often present with seizures in the infant's first days of life. In some phenotypes, the seizures can stop in infancy and are relatively benign; others can have seizures which persist into childhood and result in significant cognitive impairment. Early diagnosis may prevent unnecessary testing and guide treatment with medications specific to potassium channel dysfunction.
- PCDH19 – Epilepsy associated with this gene resembles Dravet syndrome, but affects females only.
- Glut-1 – Glucose-transporter mutations result in a spectrum of epilepsy syndromes ranging from early onset of intractable seizures of multiple types, cognitive delay and microcephaly to milder phenotypes of early onset absence seizures (onset age < 4 years). Early diagnosis can improve treatment, as the ketogenic diet is a recognized therapy of choice for these patients.
When if comes to caring for your child, Cook Children's provides some of the nation's most advanced, child-friendly care by having:
- A family-centered approach to diagnosis and treatment of epilepsy, reviewing all risks and benefits of care prior to making a final treatment decision.
- Specialists who work together in the exam and operating rooms.
- Experienced epileptologists and geneticists who identify the seizure type and create a unique treatment plan for each patient.
While we provide some of the nation's most advanced, child-friendly care, we know that care extends into adulthood. We provide a long-term comprehensive plan of care to help our patients live their best life through our Adult Genetic Epilepsy Clinic led by Hamid Kadiwala M.D.
Diagnosing genetic epilepsy early in a child's life may limit unnecessary invasive testing, help avoid treatments which may worsen or aggravate the child's epilepsy and can ultimately lead to an improved outcome.
Breaking new ground in the treatment of Dravet syndrome
Cook Children’s Neurosciences Medical Director, Scott Perry, M.D., talks about a rare form of epilepsy called Dravet syndrome, and shares how the ongoing study and research of this genetic seizure disorder is bringing hope to children with this often severe and debilitating condition.
We're here to help.
If your child has been diagnosed, you probably have lots of questions. We can help. If you would like to schedule an appointment, refer a patient or speak to our staff, please call our offices at 682-885-2500.