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Mutations in SCN3A Cause Early Infantile Epileptic Encephalopathy in Annals of Neurology

Feb 21, 2018

The lab publishes a paper in Annals of Neurology. We found that de novo heterozygous variants in SCN3A are a novel cause of early infantile epileptic encephalopathy. Read the paper here. 

Press

  • Beyond the Ion Channel: The ILAE Genetics Commission Blog
  • Chop.edu

 

Ethan M. Goldberg, MD, PhD


The Children’s Hospital of Philadelphia
Abramson Research Building, Rm 516G
3615 Civic Center Boulevard
Philadelphia, PA 19104

Email: goldberge@email.chop.edu

Affiliations

Division of Neurology, The Children’s Hospital of Philadelphia
Dept. of Pediatrics, The Children’s Hospital of Philadelphia
Dept. of Neurology, Perelman School of Medicine at The University of Pennsylvania
Department of Neuroscience, The University of Pennsylvania

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