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Results for Epilepsy Genetics

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Benjamin C. Kennedy, MD
Benjamin C. Kennedy

Dr. Kennedy's current research focuses on epilepsy genetics and epilepsy surgery, including stereo-EEG, hemispherotomy, corpus callosotomy, and vagal nerve stimulation.

E-mail:
kennedybc [at] chop.edu
Dennis Dlugos, MD, MSCE
Dennis Dlugos

Dr. Dlugos is the director of the Section of Clinical Neurophysiology at Children’s Hospital of Philadelphia. He studies epilepsy genetics, pharmacogenetics, and epilepsy surgery. He is also a core faculty member of the ENGIN Frontier Program.

E-mail:
dlugos [at] chop.edu
Ingo Helbig, MD
Ingo Helbig

Dr. Helbig is a pediatric neurologist in the Division of Neurology and a core faculty member of the ENGIN Frontier Program.

E-mail:
helbigi [at] chop.edu
Eric D. Marsh, MD, PhD
Eric D. Marsh

Dr. Marsh's research program focuses on understanding how changes in brain development lead to epilepsy, intellectual disability, and autism. He combines molecular and physiological tools in mouse models to ask questions about the interaction of normal development with single gene mutations to determine how the brain responds to perturbations in development.

E-mail:
marshe [at] chop.edu
Ethan M. Goldberg, MD, PhD
Ethan M. Goldberg

Dr. Goldberg's research program focuses on investigating cerebral cortical circuit function and dysfunction in neurodevelopmental disorders. Using a variety of research techniques, Dr. Goldberg has a specific research interest in the workings of neuron subtype called GABAergic inhibitory interneuron and the role of interneuron dysfunction in disease.

E-mail:
goldberge [at] chop.edu
Xilma R. Ortiz-Gonzalez, MD, PhD
Xilma R. Ortiz-Gonzalez

Dr. Ortiz-Gonzalez is a physician-scientist specializing in pediatric neurogenetics. Her clinical work focuses on finding a unifying genetic diagnosis for children with rare neurodevelopmental disorders. Her research is informed by her patients and focuses on understanding how genetic changes, in particular those affecting mitochondrial function, cause disease so we can develop better treatments for these children in the future.

Katherine L. Helbig, MS, LCGC
Katherine L. Helbig

Katherine Helbig’s research focuses on identifying new genetic causes of epilepsy and understanding how genetic variation leads to seizures. An additional research focus is improving access to genetic services for people with epilepsy and investigating the impact of genetics on health outcomes.

E-mail:
helbigk [at] chop.edu

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.

CHOP Researchers Discover Genetic Variant Associated with Earlier Onset Childhood Epilepsy

Published on
Nov 29, 2022
in Press Releases
Patients with the identified variant may respond favorably to targeted treatment with a readily available anti-seizure medication.

In The News: Food Allergies, Telemedicine, Parkway Run, Fungal Disease, Sickle Cell Documentary

Published on
Sep 30, 2022
in Cornerstone Blog
In the News
Learn about novel findings and new grants from Children’s Hospital of Philadelphia researchers.
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In this section

Filter By

  • Principal Investigator / Faculty (6)
  • Researcher / Lab Personnel (1)

Organizations

  • Division of Neurology (18)
  • Epilepsy NeuroGenetics Initiative (ENGIN) (15)
  • Department of Pediatrics (14)
  • Center for Injury Research and Prevention (10)
  • Center for Applied Genomics (9)
  • PolicyLab (8)
  • Center for Autism Research (6)
  • Division of Human Genetics (6)
  • Center for Childhood Cancer Research (5)
  • Department of Pathology and Laboratory Medicine (4)
  • Division of Allergy and Immunology (4)
  • Division of Oncology (4)
  • Anderson Laboratory (3)
  • Center for Data-Driven Discovery in Biomedicine (3)
  • Department of Child and Adolescent Psychiatry and Behavioral Sciences (3)
  • Department of Surgery (3)
  • Division of Neurosurgery (3)
  • Mitochondrial Medicine (3)
  • Center for Mitochondrial and Epigenomic Medicine (2)
  • Center for Violence Prevention (2)
  • Department of Anesthesiology and Critical Care Medicine (2)
  • Department of Radiology (2)
  • Division of Emergency Medicine (2)
  • Division of Hematology (2)
  • Division of Infectious Diseases (2)
  • Division of Neonatology (2)
  • eMERGE (2)
  • Lifespan Brain Institute (2)
  • Minds Matter Concussion Program (2)
  • Roberts Individualized Medical Genetics Center (2)
  • Bernt Laboratory (1)
  • Cancer Immunotherapy (CAR-T) (1)
  • Center for Applied Genomics Laboratory (1)
  • Center for Child Injury Prevention Studies (1)
  • Center for Computational and Genomic Medicine (1)
  • Center for Human Phenomic Science (1)
  • Center for Pediatric Heart Valve Disorders (1)
  • Center for Spatial and Functional Genomics (1)
  • CHOP Microbiome Center (1)
  • Clinical Futures (1)
  • Comprehensive Bone Marrow Failure Center (1)
  • Developmental Biology Research Affinity Group (1)
  • Division of Adolescent Medicine (1)
  • Division of Cardiology (1)
  • Division of Endocrinology and Diabetes (1)
  • Division of Fetal Imaging (1)
  • Division of Gastroenterology, Hepatology, and Nutrition (1)
  • Division of Neuroradiology (1)
  • Division of Plastic, Reconstructive and Oral Surgery (1)
  • Division of Urology (1)
  • Eisch Laboratory (1)
  • Friedreich’s Ataxia Center of Excellence (1)
  • Goldberg Laboratory (1)
  • Helbig Laboratory (1)
  • Intellectual and Developmental Disabilities Research Center (1)
  • Leukodystrophy Center of Excellence (1)
  • Office of Academic Training and Outreach Programs (1)
  • Romberg Laboratory (1)

In this section

Filter By

  • Principal Investigator / Faculty (6)
  • Researcher / Lab Personnel (1)

Organizations

  • Division of Neurology (18)
  • Epilepsy NeuroGenetics Initiative (ENGIN) (15)
  • Department of Pediatrics (14)
  • Center for Injury Research and Prevention (10)
  • Center for Applied Genomics (9)
  • PolicyLab (8)
  • Center for Autism Research (6)
  • Division of Human Genetics (6)
  • Center for Childhood Cancer Research (5)
  • Department of Pathology and Laboratory Medicine (4)
  • Division of Allergy and Immunology (4)
  • Division of Oncology (4)
  • Anderson Laboratory (3)
  • Center for Data-Driven Discovery in Biomedicine (3)
  • Department of Child and Adolescent Psychiatry and Behavioral Sciences (3)
  • Department of Surgery (3)
  • Division of Neurosurgery (3)
  • Mitochondrial Medicine (3)
  • Center for Mitochondrial and Epigenomic Medicine (2)
  • Center for Violence Prevention (2)
  • Department of Anesthesiology and Critical Care Medicine (2)
  • Department of Radiology (2)
  • Division of Emergency Medicine (2)
  • Division of Hematology (2)
  • Division of Infectious Diseases (2)
  • Division of Neonatology (2)
  • eMERGE (2)
  • Lifespan Brain Institute (2)
  • Minds Matter Concussion Program (2)
  • Roberts Individualized Medical Genetics Center (2)
  • Bernt Laboratory (1)
  • Cancer Immunotherapy (CAR-T) (1)
  • Center for Applied Genomics Laboratory (1)
  • Center for Child Injury Prevention Studies (1)
  • Center for Computational and Genomic Medicine (1)
  • Center for Human Phenomic Science (1)
  • Center for Pediatric Heart Valve Disorders (1)
  • Center for Spatial and Functional Genomics (1)
  • CHOP Microbiome Center (1)
  • Clinical Futures (1)
  • Comprehensive Bone Marrow Failure Center (1)
  • Developmental Biology Research Affinity Group (1)
  • Division of Adolescent Medicine (1)
  • Division of Cardiology (1)
  • Division of Endocrinology and Diabetes (1)
  • Division of Fetal Imaging (1)
  • Division of Gastroenterology, Hepatology, and Nutrition (1)
  • Division of Neuroradiology (1)
  • Division of Plastic, Reconstructive and Oral Surgery (1)
  • Division of Urology (1)
  • Eisch Laboratory (1)
  • Friedreich’s Ataxia Center of Excellence (1)
  • Goldberg Laboratory (1)
  • Helbig Laboratory (1)
  • Intellectual and Developmental Disabilities Research Center (1)
  • Leukodystrophy Center of Excellence (1)
  • Office of Academic Training and Outreach Programs (1)
  • Romberg Laboratory (1)
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