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Mutations in SCN3A cause early infantile epileptic encephalopathy.
Zaman, Tariq; Helbig, Ingo; Bozovic, Ivana Babic; DeBrosse, Suzanne D; Bergqvist, A Christina; Wallis, Kimberly; Medne, Livija; Maver, Ales; Peterlin, Borut; Helbig, Katherine L; Zhang, Xiaohong; Goldberg, Ethan M.
Affiliation
  • Zaman T; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA.
  • Helbig I; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA.
  • Bozovic IB; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian Albrecht University, Kiel, Germany.
  • DeBrosse SD; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
  • Bergqvist AC; Department of Biology and Medical Genetics, School of Medicine, University of Rijeka, Rijeka, Croatia.
  • Wallis K; Departments of Genetics and Genome Sciences, Pediatrics, and Neurology, and Center for Human Genetics, Case Western Reserve University School of Medicine, Cleveland, OH.
  • Medne L; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA.
  • Maver A; Departments of Genetics and Genome Sciences, Pediatrics, and Neurology, and Center for Human Genetics, Case Western Reserve University School of Medicine, Cleveland, OH.
  • Peterlin B; Division of Human Genetics, Department of Pediatrics, Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA.
  • Helbig KL; Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.
  • Zhang X; Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.
  • Goldberg EM; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA.
Ann Neurol ; 83(4): 703-717, 2018 04.
Article in En | MEDLINE | ID: mdl-29466837
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spasms, Infantile / Sodium Channels / NAV1.3 Voltage-Gated Sodium Channel / Mutation Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child, preschool / Female / Humans / Male Language: En Journal: Ann Neurol Year: 2018 Type: Article Affiliation country: Panama
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spasms, Infantile / Sodium Channels / NAV1.3 Voltage-Gated Sodium Channel / Mutation Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child, preschool / Female / Humans / Male Language: En Journal: Ann Neurol Year: 2018 Type: Article Affiliation country: Panama