Published on in CHOP News
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.
Published on in CHOP News
Recovery of normal signaling of a key brain cell may be a critical therapeutic target to reduce seizures and cognitive impairment.
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Measuring days children are minimally impacted by seizures could help researchers determine effectiveness of precision medicine clinical trials.
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Goldberg presented the Fritz E. Dreifuss lecture during the Presidential Symposium portion of the annual meeting.