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Patients with this complex neurological disorder experience a wide variety of symptoms, which can be managed with early and proper diagnosis.
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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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Through collaboration with research partners, patients, foundations, and community members, we are working to defeat childhood brain cancer and find better treatments for current patients. Read about recent milestones we’ve hit to accelerate pediatric brain tumor research.
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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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CHOP neurosurgeons collaborated with researchers from the University of Pennsylvania School of Medicine to confirm the presence of these neurons from birth through age 92.
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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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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.