De Novo HECW2 Mutation Associated With Epilepsy, Developmental Decline, and Intellectual Disability: Case Report and Review of Literature

Natalie L. Ullman, Constance Leonie Smith-Hicks, Sonal Desai, Carl Stafstrom

Research output: Contribution to journalArticle

Original languageEnglish (US)
JournalPediatric Neurology
DOIs
StateAccepted/In press - Jan 1 2018

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Developmental Disabilities
Intellectual Disability
Epilepsy
Mutation

Keywords

  • Epilepsy
  • Epileptic encephalopathy
  • HECW2
  • Whole exome sequencing

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Developmental Neuroscience
  • Clinical Neurology

Cite this

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title = "De Novo HECW2 Mutation Associated With Epilepsy, Developmental Decline, and Intellectual Disability: Case Report and Review of Literature",
keywords = "Epilepsy, Epileptic encephalopathy, HECW2, Whole exome sequencing",
author = "Ullman, {Natalie L.} and Smith-Hicks, {Constance Leonie} and Sonal Desai and Carl Stafstrom",
year = "2018",
month = "1",
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doi = "10.1016/j.pediatrneurol.2018.03.005",
language = "English (US)",
journal = "Pediatric Neurology",
issn = "0887-8994",
publisher = "Elsevier Inc.",

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AU - Stafstrom, Carl

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KW - Whole exome sequencing

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JO - Pediatric Neurology

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