Results for Developmental Encephalopathies

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In the News: Novel Genetic Disorder, ‘Peanut Patch,’ Neonatal Outcomes, Seed Grants

Published on
May 12, 2023
in Cornerstone Blog
In the News: Novel Disorder, ‘Peanut Patch,’ Neonatal Outcomes, Seed Grants
Learn about a novel disorder caused by rare genetic variants, the importance of global neonatal outcomes, and more, in this week’s edition of In the News.

In the News: Outstanding Science Award, Highly Cited Researcher, STAT Wunderkinds

Published on
Dec 9, 2022
in Cornerstone Blog
In the News
This week's news roundup features an outstanding science award, Highly Cited Researchers, and STAT Wunderkinds, along with new research about cancer risk with birth defects, epilepsy, and acute myeloid leukemia.

In the News: CureARS, Pigment Production, TBCK

Published on
Oct 14, 2022
in Cornerstone Blog
In the News
Read the latest findings and new grants from Children’s Hospital of Philadelphia researchers.

CHOP Researchers Pursue the Basic Mechanisms of Genetic Childhood Epilepsies

Published on
Jul 20, 2022
in Cornerstone Blog
CHOP Researchers Pursue the Basic Mechanisms of Genetic Childhood Epilepsies
Dr. Ethan Goldberg received a new grant and published a paper, both focusing on the role of ion channels and genes in epileptic disorders.

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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