IDefine joins Rare Epilepsy Network

Epilepsy is a brain disorder that causes recurring, unprovoked seizures. Doctors may diagnose individuals with epilepsy if they have two unprovoked seizures or one unprovoked seizure with a high risk of more.

Dr. Siddharth Srivastava, director of the Kleefstra Clinic at Boston Children’s Hospital, says about 30% of individuals with Kleefstra syndrome may have seizures. That is significantly higher than the general population underscoring the need for awareness, monitoring and tailored medical care.

Causes of the epilepsy are grouped into six categories: genetic, structural, metabolic, immune-related, infection, or unknown. Although epilepsy as a diagnosis is not rare, many causes of epilepsy may be rare. When the underlying cause of epilepsy impacts fewer than 200,000 individuals it is considered a rare epilepsy. Examples of rare genetic epilepsies include KS, Dravet syndrome, and Angelman syndrome.

To provide its community with information, education, support, and community surrounding this brain disorder, IDefine has joined the Rare Epilepsy Network.

The Rare Epilepsy Network connects 125 plus rare epilepsy organizations to promote awareness and advocacy, and work to find cures and treatments for all rare epilepsies.

The Rare Epilepsy Network has organized resources for different stakeholders including clinicians, researchers and data seekers, rare organizations, and parents and caregivers here. The network can also help those with epilepsy discover opportunities to participate in clinical trials and other research that can help scientists better understand the disease and help improve treatments and care.

Dr. Sid says EEGs and MRIs are essential in diagnosing seizures differentiating between seizure types. They can also help in guiding treatment options and understanding a patient’s neurological status. Various anti-seizure medications, dietary therapies, and surgical procedures are available for managing epilepsy in Kleefstra syndrome, underscoring the importance of personalized treatment plans.

For more information, watch Dr. Sid’s full presentation from the 2024 Kleefstra Syndrome North American Family Conference, “An Overview on MRI Findings, Seizures, and EEGs in Kleefstra Syndrome.”