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Results for Developmental Encephalopathies

1 - 6 of 6

In the News: Cancer Summit, Social Cues in Autism, Leigh Syndrome, Epilepsies

Published on
Mar 18, 2022
in Cornerstone Blog
In the News
This week in the news: a pediatric cancer summit, early diagnosis of Leigh Syndrome, quality of life in severe epilepsy, and more.

Snapshot Science: Could Improved Mitochondrial Function Affect Pediatric Neurodegeneration?

Published on
Oct 21, 2021
in Cornerstone Blog
TBCK-patient derived fibroblasts
Findings support lysosomal acidification strategies for pediatric neurodegenerative disorders with impaired mitochondrial quality control.

New Causative Gene Found in Severe Childhood Epilepsy

Published on
Oct 24, 2018
in Press Releases
CHOP Researchers Implicate Overactive Calcium Channel; May Offer Clues to Better Treatment

In the News: Soy-based Formula Infants, Bone Strength Genetics, Infant Epilepsy, Intravenous Arginine, Concussion Conference

Published on
Mar 23, 2018
in Cornerstone Blog
CHOP Research In the News
This week in research news: teasing out genetic clues across the skeleton, a "missing mutation" in infant epilepsy, and studying soy-based baby formulas.

"Missing Mutation" Found in Severe Infant Epilepsy

Published on
Mar 20, 2018
in Press Releases
CHOP Researchers: Findings May Pave Way for Early Protective Treatments

Rett Syndrome Clinical Research Center of Excellence

Rett Syndrome Clinical Research Center of Excellence

Merging excellent clinical care with front line research, the Children’s Hospital of Philadelphia is part of a multisite research collaborative centered on the Natural History of Rett Syndrome and Related Disorders trial to provide data on seizures, development, motor function and more in children with Rett syndrome, as well as the development o

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  • Division of Neurology (2)
  • Mitochondrial Medicine (2)
  • Center for Autism Research (1)
  • Center for Mitochondrial and Epigenomic Medicine (1)
  • Center for Violence Prevention (1)
  • Department of Pathology and Laboratory Medicine (1)
  • Department of Pediatrics (1)
  • Division of Gastroenterology, Hepatology, and Nutrition (1)
  • Epilepsy NeuroGenetics Initiative (ENGIN) (1)
  • Minds Matter Concussion Program (1)
  • Spatial and Functional Genomics Collaborative (1)

In this section

Organizations

  • Division of Neurology (2)
  • Mitochondrial Medicine (2)
  • Center for Autism Research (1)
  • Center for Mitochondrial and Epigenomic Medicine (1)
  • Center for Violence Prevention (1)
  • Department of Pathology and Laboratory Medicine (1)
  • Department of Pediatrics (1)
  • Division of Gastroenterology, Hepatology, and Nutrition (1)
  • Epilepsy NeuroGenetics Initiative (ENGIN) (1)
  • Minds Matter Concussion Program (1)
  • Spatial and Functional Genomics Collaborative (1)
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