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Dravet syndrome is a severe neurodevelopmental disorder defined by treatment-resistant epilepsy and features related to autism spectrum disorder.
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Findings demonstrate how a new computational method could effectively analyze phenotypes and identify similarities among patient populations.
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STXBP1-related disorders include gastrointestional and respiratory symptoms in certain patients, according to extensive interviews with caregivers.
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A $25 million gift from an anonymous donor to Penn Medicine and Children’s Hospital of Philadelphia (CHOP) will establish the Center for Epilepsy and Neurodevelopmental Disorders (ENDD), accelerating collaborative research in genetic therapies for neurodevelopmental disorders.
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Patients with the identified variant may respond favorably to targeted treatment with a readily available anti-seizure medication.
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Certain patients were more likely to use telemedicine even with the reopening of in-person appointments, while barriers to telemedicine remained for some families.
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While telemedicine appeared to be effective in 95% of cases, some younger patients and those with neuromuscular disorders still required in-person visits.
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Unique endocrinology-neurology collaboration seeks to understand the variation in seizure activity in patients with hyperinsulinism/hyperammonemia.
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Unique endocrinology-neurology collaboration seeks to understand the variation in seizure activity in patients with hyperinsulinism/hyperammonemia.
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Recovery of normal signaling of a key brain cell may be a critical therapeutic target to reduce seizures and cognitive impairment.