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Dravet syndrome is a rare form of epilepsy that typically begins between 1 and 18 months of age. The first seizure is typically a convulsive seizure, either affecting the full body, which is then called a generalized tonic-clonic seizure, or half of the body, which is called a hemiconvulsion. At onset a patient’s neurological exam and MRI are normal, and the patient will have normal or nonspecific EEG findings. Diagnosis can be made through clinical findings: age of onset, type of seizures, length of seizures, seizures that are resistant to therapies, and developmental delays. Around 80% of those diagnosed with Dravet syndrome have the SCN1A mutation which can be confirmed through genetic testing.

We met with Carrie, a Dravet syndrome mom to learn about her journey with her daughter, Kaylee, and Dr. Linda Laux, a pediatric epileptologist, to understand more about the diagnosis and management of the disease. We also talked with the CEO of Biocodex, Nicolas Coudurier, and Executive Director of the Dravet Syndrome Foundation, Mary Anne Meskis, to find out about their efforts to support the Dravet syndrome community.

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