Thursday, February 28, 2019

Behind the seizure

Eligibility for a program that provides free genetic testing for epilepsy in young children has been expanded. The Behind the Seizure program, which had been available for patients age 2 to 4 years with a history of 1 or more unprovoked seizures, is now offered for children from birth to age 5 years.

Over the past 2 years, hundreds of children have received testing through this program, and research has shown that participants were diagnosed 1 to 2 years sooner than historic averages for the diagnoses identified.

The 4 corporate partners in the program (Invitae Corporation, Stoke Therapeutics, Xenon Pharmaceuticals, and BioMarin Pharmaceutical sponsor the cost of testing a gene panel (Invitae Epilepsy Panel; Invitae Corporation, San Francisco, CA) of over 180 genes associated with both syndromic and non-syndromic causes of epilepsy, including neurodegenerative conditions.

On average, test results are available in 14 days. "Through this program we can secure comprehensive genetic testing for a child who has had an unprovoked seizure at no cost to the patient,” said Raman Sankar, MD, professor and chief of pediatric neurology at UCLA Mattel Children's Hospital in Los Angeles. “That testing helps us get to a diagnosis faster so we can focus on providing the most accurate and timely treatment for our patients. When dealing with such young patients, this type of program can be very important, shortening the time to diagnosis, particularly for neurodegenerative conditions such as CLN2 disease."

No-cost epilepsy gene panel testing program

Invitae, BioMarin, Stoke Therapeutics, and Xenon Pharmaceuticals have partnered to offer Invitae's comprehensive epilepsy panel to any child up to 60 months old who has had an unprovoked seizure.

An epilepsy gene panel can bring you closer to understanding what’s causing your patient’s epilepsy, helping your patients and their caregivers benefit from deeper knowledge and timely care.

More than 50% of epilepsies have some genetic basis. When a patient presents with seizures, genetic testing can help identify 100+ underlying genetic causes. Early genetic testing may be the most direct, cost-effective, and accurate diagnostic tool.1

Many genes are actionable. Gene panels increasingly help tailor your approach—more than 20 genes have been linked to specific treatment strategies. Identifying a seizure’s underlying etiology can enable more precise treatment.

Delay can be devastating for patients with genetic epilepsy. Some genetic epilepsies are neurodegenerative, and may initially present with subtle, non-specific symptoms like language development delay and/ or motor disturbance. Genetic testing can help identify the cause of epilepsy before a patient experiences the hallmark signs of regression.

Genetic epilepsies may be hiding behind non-specific symptoms. Language delay and motor disturbance may be the best predictors of finding genetic epilepsies.

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