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Rapid Diagnosis of KCNQ2-Associated Early Infantile Epileptic Encephalopathy Improved Outcome.
Chen, Dillon Y; Chowdhury, Shimul; Farnaes, Lauge; Friedman, Jennifer R; Honold, Jose; Dimmock, David P; Gold, On Behalf Of The Rcigm Investigators Jeffrey J.
Afiliação
  • Chen DY; Department of Neuroscience at the University of California, San Diego, San Diego, California; Division of Neurology, Rady Children's Hospital San Diego, San Diego, California.
  • Chowdhury S; Rady Children's Institute of Genomic Medicine, San Diego, California.
  • Farnaes L; Division of Neurology, Rady Children's Hospital San Diego, San Diego, California; Department of Pediatrics at the University of California, San Diego, San Diego, California.
  • Friedman JR; Department of Neuroscience at the University of California, San Diego, San Diego, California; Division of Neurology, Rady Children's Hospital San Diego, San Diego, California; Rady Children's Institute of Genomic Medicine, San Diego, California; Department of Pediatrics at the University of Californ
  • Honold J; Division of Neonatology, Rady Children's Hospital San Diego, San Diego, California.
  • Dimmock DP; Rady Children's Institute of Genomic Medicine, San Diego, California.
  • Gold OBOTRIJJ; Department of Neuroscience at the University of California, San Diego, San Diego, California; Department of Pediatrics at the University of California, San Diego, San Diego, California. Electronic address: jjgold@ucsd.edu.
Pediatr Neurol ; 86: 69-70, 2018 09.
Article em En | MEDLINE | ID: mdl-30107960

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Mutação de Sentido Incorreto / Canal de Potássio KCNQ2 Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Humans / Newborn Idioma: En Revista: Pediatr Neurol Assunto da revista: NEUROLOGIA / PEDIATRIA Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Mutação de Sentido Incorreto / Canal de Potássio KCNQ2 Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Humans / Newborn Idioma: En Revista: Pediatr Neurol Assunto da revista: NEUROLOGIA / PEDIATRIA Ano de publicação: 2018 Tipo de documento: Article